Inclusion of a positive sample in each MLPA or digitalMLPA experiment is not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. You can sometimes obtain a useful positive sample from an online biorepository, such as the one from the Coriell Institute.
We have tested a large number of commercially available positive samples with our MLPA or digitalMLPA probemixes. A list of positive samples that provide useful results and their verified copy number change(s) can be found in the table below. These samples can be used as positive control samples for the specified probemix(es). You are welcome to contact us if you know of other positive samples that can be useful for one of our probemixes.
| The quality of cell lines can change, and these samples are not controlled by us. In addition, exon numbering may change and the table may contain inaccuracies. Therefore, all samples should be validated in-house before use. |
Notes:
- All samples can be obtained from the Coriell Institute or DSMZ unless noted otherwise. You can find these samples by searching for the sample id on the appropriate website.
- Samples obtained from the Coriell Institute can often be diluted to 10 ng/µl upon arrival.
- Probemixes are specified by their major version. Read more about version numbers of probemixes in this article.
| Probemix(es) | Gene(s) | Sample ID &
gender (m/f) |
Copy number changes detected |
| D001-B | Various | See the product description for a large number of positive samples. | |
| ME011-C | BRAF | DSMZ ACC-427 (DU-4475) (f) | Positive for the BRAF c.1799T>A (p.V600E) mutation. |
| EPCAM/MSH2/MSH6 | Coriell NA10401 (f) | Large heterozygous duplication that includes MSH6, MSH2, EPCAM, a digestion control probe and two reference probes for chromosome 2. This cell line has a partial trisomy of chromosome 2. | |
| ME012-A | 10q26.3 region | Coriell NA00959 (m) | Heterozygous duplication affecting all MGMT probes. |
| Coriell NA05299 (f) | Heterozygous deletion affecting all MGMT probes. | ||
| Coriell NA20263 (m) | Heterozygous deletion affecting all MGMT probes. | ||
| DSMZ ACC-569 (MOLP-8) (f) | Heterozygous deletion affecting all MGMT probes. | ||
| See the product description for a number of cancer cell lines with known methylation levels. | |||
| ME024-B | 9p region | Coriell NA02819 (f) | Gain of CDKN2A, CDKN2B, MIR31, MTAP, and the telomeric flanking probes. CDKN2A/2B are unmethylated; MIR31 is methylated. |
| Coriell NA03226 (m) | Gain of all target probes on 9p. CDKN2A/2B are unmethylated; MIR31 is methylated. | ||
| Coriell NA10186 (m) | Gain of all target probes on 9p. CDKN2A/2B are unmethylated; MIR31 is methylated. | ||
| Coriell NA11115 (m) | Gain of all target probes on 9p. CDKN2A/2B are unmethylated; MIR31 is methylated. | ||
| DSMZ ACC-264 (COLO-679) (f) | Heterozygous deletion of CDKN2B, MIR31, MTAP and several telomeric flanking probes. Homozygous deletion of CDKN2A. CDKN2B is unmethylated; MIR31 is methylated. | ||
| DSMZ ACC-255 (CADO-ES1) (f) | Homozygous deletion of MTAP, CDKN2A and CDKN2B. MIR31 is unmethylated. | ||
| DSMZ ACC-29 (MOLT-16) (f) | Homozygous deletion of CDKN2A and CDKN2B. MIR31 is methylated. | ||
| DSMZ ACC-573 (SU-DHL-8) (f) | CDKN2A exon 1 is not methylated; CDKN2B is partially methylated; CDKN2A exon 2 and MIR31 are methylated. | ||
| ME028-C | 15q11/SNRPN | Coriell NA13554 (m) | Heterozygous deletion of a small SNRPN region affecting 6 probes (maternal); asymptomatic. |
| Coriell NA13556 (f) | Heterozygous deletion of a small SNRPN region affecting 6 probes (paternal); Prader-Willi syndrome. | ||
| Coriell NA21887 (f) | Large heterozygous deletion that includes the OCA2 gene and the TUBGCP5/NIPA1 region; Angelman syndrome. | ||
| Coriell NA20375 (m) | Large heterozygous deletion that includes the OCA2 gene but not the TUBGCP5/NIPA1 region; Angelman syndrome. | ||
| Coriell NA20408 (f) | Uniparental disomy (no copy number changes); Prader-Willi syndrome. | ||
| The NIBSC Institute provides an excellent panel of WHO certified genomic DNA samples for Prader Willi and Angelman syndrome (catalog number 09/140). | |||
| ME029-B | FMR1 | Coriell NA09145 (m) | FMR1 full mutation sample. |
| Coriell NA09237 (m) | FMR1 full mutation sample. | ||
| Coriell NA20231 (m) | FMR1 premutation sample. | ||
| P002-D | BRCA1 | Coriell NA14626 (f) | Heterozygous BRCA1 exon 13 duplication. |
| Coriell NA18949 (f) | Heterozygous BRCA1 exon 15-16 deletion. | ||
| P003-D | MLH1/MSH2 | The NIBSC Institute provides a kit with 5 DNA samples containing heterozygous MLH1 or MSH2 exon deletions or amplifications (catalog number 11/218-XXX). | |
| P015-F | MECP2 | Coriell NA23599 (f) | Heterozygous MECP2 exon 3-4 deletion. |
| Coriell NA23635 (f) | Heterozygous MECP2 exon 3 and partial exon 4 deletion. | ||
| Coriell NA23648 (f) | Heterozygous MECP2 exon 4 (partial) deletion that extends into IRAK1. | ||
| Coriell NA23654 (f) | Heterozygous MECP2 exon 3 and partial exon 4 deletion. | ||
| Coriell NA23733 (f) | Heterozygous duplication of the complete MECP2 gene (from L1CAM to FLNA). | ||
| Coriell NA23734 (m) | Duplication of the complete MECP2 gene (from L1CAM to FLNA). | ||
| P016-C | VHL | Coriell NA10985 (f) | Heterozygous deletion of the complete VHL gene and all other target genes, except for MLH1. |
| P018-G | SHOX | Coriell NA20212 (f) | Heterozygous deletion (~0.9 Mb) of the SHOX gene and the downstream SHOX area. |
| Coriell NA20217 (m) | Compound heterozygous deletions: one from upstream of SHOX to downstream of SHOX, and one in the SHOX downstream area. | ||
| Coriell NA20218 (f) | Compound heterozygous deletions: one from upstream of SHOX to downsteam of SHOX, and one from upstream of SHOX to the last probe of SHOX, resulting in a homozygous deletion of all probes for SHOX. | ||
| P021-B | SMN1/SMN2 | See the product description for a large number of positive samples. | |
| P022-B | PLP1 | Coriell NA13434 (m) | PLP1 exon 5 deletion. |
| P025-A | 17p/CTNS/ASPA | Coriell NA06047 (m) | Large heterozygous deletion (5.6 Mb) that includes the complete ASPA gene. |
| P029-C | 7q11.23 region | Coriell NA13464 (m) | Williams-Beuren syndrome deletion (commonly deletion region). |
| P033-B | PMP22 | Coriell NA05167 (f) | Heterozygous duplication that includes the COX10, PMP22 and TEKT3 genes. |
| Coriell NA12214 (m) | Heterozygous duplication that includes the COX10, PMP22 and TEKT3 genes. | ||
| P034-B | DMD | Coriell NA05117 (f) | Heterozygous DMD exon 45 deletion. |
|
P034-B &
|
DMD | Coriell NA05123 (m) | DMD exon 45-62 duplication. |
| Coriell NA23087 (f) | Heterozygous DMD exon 2-30 duplication. | ||
| Coriell NA23094 (f) | Heterozygous DMD exon 35-43 deletion. | ||
| P035-B | DMD | Coriell NA10283 (m) | DMD exon 72-79 deletion. |
| P036-E | 17p | Coriell NA06047 (m) | Heterozygous deletion that affects the RPH3AL probe for 17p. |
| P037-B | 2p region | Coriell NA00945 (f) | Heterozygous deletion that affects all MYCN probes. |
| Coriell NA01353 (m) | Heterozygous duplication that affects all MYCN and ALK probes. | ||
| Coriell NA04409 (m) | Heterozygous duplication that affects all MYCN probes. | ||
| Coriell NA09216 (m) | Heterozygous deletion that affects all MYCN probes. | ||
| Coriell NA10401 (f) | Heterozygous duplication that affects all MYCN, ALK and REL probes. | ||
| 6q region | Coriell NA06802 (m) | Heterozygous deletion that affects all IGF2R and PARK2 probes. | |
| Coriell NA07994 (m) | Heterozygous duplication that affects all TNFAIP3, LATS1, IGF2R and PARK2 probes. | ||
| Coriell NA09367 (f) | Heterozygous duplication that affects all SEC63 and TNFAIP3 probes. | ||
| 8p region | Coriell NA03255 (m) | Heterozygous duplication that affects all TNFRSF10A and TNFRSF10B probes. | |
| Coriell NA14485 (m) | Heterozygous duplication that affects all TNFRSF10A and TNFRSF10B probes. | ||
| 8p/q region | Coriell NA02030 (m) | Heterozygous duplication that affects all TNFRSF10A, TNFRSF10B, EIF3H and MYC probes. | |
| 8q region | Coriell NA03999 (f) | Heterozygous deletion that affects all MYC probes. | |
| 9p region | Coriell NA03226 (m) | Heterozygous duplication that affects all CDKN2A and CDKN2B probes. | |
| 11q region | Coriell NA08618 (m) | Heterozygous duplication that affects all ATM probes. | |
| Coriell NA09596 (m) | Heterozygous deletion that affects all ATM probes. | ||
| 12p region | Coriell NA07981 (m) | Homozygous duplication that affects all CCND2 and LRMP probes. | |
| 13q14 region | Coriell NA03330 (m) | Heterozygous duplication that affects all RB1, FNDC3A, KCNRG, MIR15A, DLEU2, DLEU7 and ATP7B probes. | |
| Coriell NA05832 (m) | Heterozygous duplication that affects all RB1, FNDC3A, KCNRG, MIR15A, DLEU2, DLEU7 and ATP7B probes. | ||
| Coriell NA12606 (m) | Heterozygous duplication that affects all RB1, FNDC3A, KCNRG, MIR15A, DLEU2, DLEU7 and ATP7B probes. | ||
| Coriell NA13721 (m) | Heterozygous deletion that affects all RB1, FNDC3A, KCNRG, MIR15A, DLEU2, DLEU7 and ATP7B probes. | ||
| Coriell NA14164 (f) | Heterozygous deletion that affects all RB1, FNDC3A, KCNRG, MIR15A, DLEU2, DLEU7 and ATP7B probes. | ||
| Various | Coriell NA02819 (f) | Heterozygous duplication that affects all CDKN2A and CDKN2B probes; heterozygous deletion that affects all CHFR probes. | |
| DSMZ ACC-203 (SK-N-MC) (f) | Heterozygous deletions that affects all MYCN and TP53 probes; amplification that affects all TNFRSF10A, TNFRSF10B, EIF3H and MYC probes. | ||
| P038-B | 11q region | Coriell NA00959 (m) | Heterozygous duplication affecting probes for ATM, RDX, PPP2R1B and CADM1. |
| Coriell NA09596 (m) | Heterozygous deletion affecting probes for ATM and RDX. There is also a heterozygous deletion affecting probes for KIAA0125 on 14q. | ||
| Coriell NA15099 (m) | Heterozygous duplication affecting probes for ATM, RDX, PPP2R1B and CADM1. | ||
| 13q14 region | Coriell NA03330 (m) | Heterozygous duplication affecting probes for RB1, DLEU2, KCNRG, DLEU1 and ATP7B. | |
| Coriell NA05832 (m) | Heterozygous duplication affecting probes for RB1, DLEU2, KCNRG, DLEU1 and ATP7B. | ||
| Coriell NA13721 (m) | Heterozygous deletion affecting probes for RB1, DLEU2, KCNRG, DLEU1 and ATP7B. | ||
| Coriell NA14164 (f) | Heterozygous deletion affecting probes for RB1, DLEU2, KCNRG, DLEU1 and ATP7B. | ||
| 14q region | Coriell NA08123 (m) | Heterozygous deletion affecting probes for AKT1, MTA1 and KIAA0125. | |
| CD27 | Coriell NA07981 (m) | Homozygous duplication affecting the probe for CD27. | |
| PTEN | Coriell NA20125 (m) | Heterozygous duplication affecting probes for PTEN. There is also a heterozygous deletion affecting probes for KIAA0125 on 14q. | |
| P040-B | 11q region | Coriell NA00959 (m) | Heterozygous duplication of that affects all probes for the 11q region (CTTN, PICALM, ATM, DDX10, PCSK7 and NCAPD3). |
| Coriell NA08618 (m) | Heterozygous duplication of part of the 11q22.3 region, affecting probes for ATM and DDX10. | ||
| Coriell NA09596 (m) | Heterozygous deletion of part of 11q, affecting probes for PICALM, ATM and DDX10. | ||
| 12p region | Coriell NA07981 (m) | Amplification affecting all probes on 12p (CCND2, CD27 and LRMP). | |
| 13q14 region | Coriell NA03330 (m) | Heterozygous duplication that affects all probes for the 13q14 region (RB1, KCNRG, MIR15A, DLEU2, DLEU1, DLEU7 and ATP7B). | |
| Coriell NA13721 (m) | Heterozygous deletion that affects all probes for the 13q14 region (RB1, KCNRG, MIR15A, DLEU2, DLEU1, DLEU7 and ATP7B). | ||
| TP53 | DSMZ ACC-203 (SK-N-MC) (f) | Homozygous TP53 exon 2 deletion, and heterozygous deletion of other TP53 exons. | |
| P041-B &
P042-B |
ATM | Coriell NA08618 (m) | Large heterozygous duplication of part of 11q that includes the complete ATM gene. |
| P043-E | APC | Coriell NA14234 (m) | Heterozygous deletion that affects all probes for APC. |
| MUTYH | Coriell HG00097 (f), HG01092 (f), HG01095 (f), HG01500 (m), HG01685 (f), HG02224 (m), NA19789 (m), NA20522 (f) and NA20759 (m) are positive for the MUTYH c.1187G>A (p.Gly396Asp) mutation. | ||
| Coriell HG01918 (f) | Positive for the MUTYH c.536A>G (p.Tyr179Cys) mutation. | ||
| P044-C | NF2 | Coriell NA07106 (m) | Heterozygous duplication that affects all NF2 probes. The flanking probes are also affected. |
| P045-C | BRCA2 | Coriell NA02718 (f) | Large heterozygous deletion of part of 13q that includes the complete BRCA2 gene. |
| Coriell NA03330 (m) | Trisomy of chromosome 13 that includes a duplication of the complete BRCA2 gene. | ||
| CHEK2 | Coriell HG00187 (m), HG00266 (f), HG00275 (f), HG00371 (m) and NA19707 (f) are positive for the 1100delC mutation. | ||
| P046-C/D | TSC2 | Coriell NA04520 (f) | Heterozygous TSC2 exon 1-15 deletion. |
| P049-C | ABCD1 | Coriell NA17819 (m) | ABCD1 exon 6-10 deletion. |
| P050-C | CYP21A2 | Coriell NA12217 (m) | Heterozygous CYP21A2 exon 1-4 deletion. |
| Coriell NA14734 (m) | Homozygous deletion of the complete CYP21A2 gene. | ||
| P051-D &
P052-D |
LRRK2 | Coriell NA19750 (m) | Positive for the LRRK2 c.6055G>A (p.G2019S) mutation. |
| PARK2 | Coriell ND01039 (m) | Heterozygous PARK2 exon 4 deletion. | |
| Coriell ND35201 (f) | Homozygous PARK2 exon 3-4 deletion. | ||
| SNCA | Coriell ND00196 (m) | Triplication that includes the complete SCNA gene. | |
| P056-D | CHEK2 | Coriell NA07106 (m) | Duplication of the complete CHEK2 gene. This cell line has a partial trisomy of chromosome 22. |
| Coriell HG00187 (m), HG00266 (f), HG00275 (f), HG00371 (m) and NA19707 (f) are positive for the 1100delC mutation. | |||
| P060-B | SMN1/SMN2 | See the product description for a large number of positive samples. | |
| P061-D | 17p | Coriell NA06047 (m) | Heterozygous 17p deletion (telomere-ASPA-TRPV1). |
| P064-C | 1p36 region | Coriell NA22991 (f) | 1p36 deletion syndrome. |
| 4p16.3 region | Coriell NA22601 (m) | Wolf-Hirschhorn syndrome deletion. | |
| 5p15 region | Coriell NA14131 (f) | Cri-du-Chat syndrome deletion. | |
| 7q11.23 region | Coriell NA10160 (m) | Williams-Beuren syndrome deletion. | |
| 8q24.11-q24.13 region | Coriell NA09888 (f) | Langer-Giedion syndrome deletion. | |
| 15q11.2 region | Coriell NA21887 (f) | Angelman syndrome deletion. | |
| 17p13.3 region | Coriell NA06047 (m) | Miller-Dieker syndrome deletion. | |
| 17p11.2 region | Coriell NA13476 (f) | Smith-Magenis syndrome deletion. | |
| 22q11.21 region | Coriell NA17942 (m) | DiGeorge syndrome deletion (AB, BC & CD regions). | |
| P065-C &
P066-C |
FBN1 | Coriell NA03184 (m) | Large heterozygous duplication (82 Mb) that includes the complete FBN1 gene. |
| Coriell NA21940 (f) | Heterozygous FBN1 exon 45-47 deletion. | ||
| Coriell NA21939 (f) | Heterozygous FBN1 exon 43-44 deletion. | ||
| TGFBR2 | Coriell NA04127 (f) | Heterozygous duplication of the complete TGFBR2 gene. This cell line has a partial trisomy of the 3p arm. | |
| P072-D | EPCAM/MSH2/MSH6 | Coriell NA10401 (f) | Large heterozygous duplication that includes MSH6, MSH2, EPCAM and two reference probes for chromosome 2. This cell line has a partial trisomy of chromosome 2. |
| Coriell NA13451 (m) | Large heterozygous deletion (14 Mb) that includes MSH6, MSH2 and EPCAM. | ||
| MUTYH | Coriell HG00097 (f) | Heterozygous positive for the MUTYH p.G396D mutation. | |
| Coriell HG01918 (f) | Heterozygous positive for the MUTYH p.Y179C mutation. | ||
| P073-A | IKBKG | Coriell NA19225 (f) | Heterozygous deletion of IKBKG exon 4-10 (IKBKGexon4_10del mutation). |
| P078-D | 6q25 region | Coriell NA07994 (m) | Heterozygous duplication of ESR1. |
| 7p11 region | Coriell NA07081 (m) | Heterozygous duplication of EGFR. | |
| 8p/q | Coriell NA02030 (m) | Heterozygous duplication of ZNF703, FGFR1, ADAM9, IKBKB, PRDM14, MTDH and MYC. | |
| 8p12-p11 region | Coriell NA14485 (m) | Heterozygous duplication of ZNF703, FGFR1, ADAM9 and IKBKB. | |
| 8q13-q24 region | Coriell NA03999 (f) | Heterozygous deletion of MYC. | |
| 11q13 region | Coriell NA00959 (m) | Heterozygous duplication of CCND1 and EMSY. | |
| 16q22 region | Coriell NA12074 (m) | Heterozygous deletion of CDH1. | |
| 17q11-q25 region | Coriell NA16445 (m) | Heterozygous duplication of BIRC5. | |
| 20q13 region | Coriell NA08123 (m) | Heterozygous duplication of AURKA. | |
| Various | DSMZ ACC-180 (HEP-G2) (m) | Gains of ESR1, CDH1, MED1, ERBB2, CDC6, TOP2A, MAPT, PPM1D, BIRC5 and AURKA. | |
| DSMZ ACC-432 (8-MG-BA) (f) | Gains of EGFR, PRDM14, MTDH, MYC, CCND1, EMSY, MAPT, PPM1D, BIRC5, CCNE1 and AURKA. | ||
| P083-D | CDH1 | Coriell NA12074 (m) | Heterozygous deletion of the CDH1 gene. The flanking probes are not affected. |
| P087-C/D | BRCA1 | Coriell NA14626 (f) | Heterozygous BRCA1 exon 13 duplication. |
| Coriell NA18949 (f) | Heterozygous BRCA1 exon 15-16 deletion. | ||
| P088-C | 1p36 region | Coriell NA50276 (m) | Heterozygous deletion of the PARK7 probe. |
| 1q3 region | Coriell NA00214 (m) | Heterozygous deletion affecting probes for CRB1 and TNNT2. | |
| Various | Coriell NA22976 (m) | Heterozygous deletion affecting the probes for GNB1, TNFRSF14 and TP73 (1p36), and heterozygous duplication of CDKN2A and CDKN2B (9p21.3). | |
| P089-B | RRM2B | Coriell NA02030 (m) | Heterozygous duplication of RRM2B. |
| SUCLA2 | Coriell NA02718 (f) | Heterozygous deletion of SUCLA2. | |
| Coriell NA03330 (m) | Heterozygous duplication of SUCLA2. | ||
| TK2 | Coriell NA19401 (f) | Heterozygous TK2 exon 1-2 deletion. | |
| Various | Coriell NA10401 (f) | Heterozygous duplication of MPV17, DGUOK and SUCLG1. | |
| P090-C | BRCA2 | Coriell NA03330 (m) | Trisomy of chromosome 13 that includes a duplication of the complete BRCA2 gene. |
| Coriell NA02718 (f) | Large heterozygous deletion of part of 13q that includes the complete BRCA2 gene. | ||
| P091-D | CFTR | Coriell HG01565 (m) | Heterozygous deletion of the complete CFTR gene. The flanking probes are not affected. |
| Coriell HG02461 (m) | Heterozygous CFTR exon 19-21 deletion. | ||
| Coriell HG04131 (m) | Heterozygous CFTR exon 4-11 deletion. | ||
| Coriell NA01059 (f) | Heterozygous deletion of the complete CFTR gene. The flanking probes are also affected. | ||
| Coriell NA01531 (m) | Homozygous positive for the CFTR ΔF508 mutation. | ||
| Coriell NA11277 (m) | Heterozygous positive for the CFTR ΔI507 mutation. | ||
| Coriell NA12519 (f) | Heterozygous triplication of the complete CFTR gene (4 copies). The flanking probes are also affected. | ||
| Coriell NA18668 (m) | Heterozygous CFTR exon 2-3 deletion; heterozygous positive for the CFTR ΔF508 mutation. | ||
| P098-C/D | ATP7B | Coriell NA05258 (f) | Heterozygous positive for the ATP7B H1069Q mutation in exon 14. |
| P099-D | GCH1 | Coriell NA05966 (m) | Heterozygous duplication affecting the GCH1 probes. |
| PRRT2 | Coriell NA05875 (f) | Heterozygous deletion affecting the PRRT2 probes. | |
| SGCE | Coriell NA10160 (m) | Heterozygous deletion affecting the SGCE probes. | |
| P102-C/D | HBB | Coriell NA06342 (m) | Heterozygous HBG1 intron 2 to HBB intron 1 (Hb Kenya-gamma); heterozygous positive for the HBB c.20A>T mutation (HbS). |
| Coriell NA20480 (m) | Heterozygous HBD intron 1 to HBB intron 1 (Hb Lepore-Baltimore). | ||
| Coriell NA16267 (m) | Heterozygous positive for the HBB c.20A>T mutation (HbS). | ||
| P103-C | DPYD | Coriell HG02684 (m) | Homozygous positive for the DPYD c.1905+1G>A (IVS14+1G>A) mutation. |
| Coriell NA07048 (m) | Heterozygous positive for the DPYD c.2846A>T mutation. | ||
| Coriell NA21112 (m) | Heterozygous positive for the DPYD c.1905+1G>A (IVS14+1G>A) mutation. | ||
| P114-C | KCNE1/KCNE2 | Coriell NA13031 (m) | Heterozygous duplication that affects all KCNE1 and KCNE2 probes. |
| KCNH2 | Coriell NA01220 (f) | Heterozygous duplication that affects all KCNH2 probes. | |
| Coriell NA07412 (m) | Heterozygous deletion that affects all KCNH2 probes. | ||
| Coriell NA08808 (m) | Heterozygous deletion that affects all KCNH2 probes. | ||
| Coriell NA12519 (f) | Heterozygous duplication or heterozygous triplication that affects all KCNH2 probes. | ||
| KCNQ1 | Coriell NA03435 (m) | Heterozygous duplication that affects all KCNQ1 probes. | |
| P118-C | WT1 | Coriell NA05518 (f) | Heterozygous deletion of the WT1 gene. The flanking probes are also affected. |
| Coriell NA06803 (m) | Heterozygous deletion of the WT1 gene. The flanking probes are also affected. | ||
| Coriell NA09709 (m) | Heterozygous deletion of the WT1 gene. The flanking probes are also affected. | ||
| P125-C | mtDNA | Coriell NA11605 (f) | Positive for the 3460G>A mutation (~95% mutation/~5% wild-type). |
| Coriell NA11906 (f) | Positive for the 8344A>G mutation (~35% mutation/~65% wild-type) | ||
| Coriell NA11907 (f) | Positive for the 8344A>G mutation (~98% mutation/~2% wild-type). | ||
| Coriell NA13411 (m) | Positive for the 8993T>G mutation (100% mutation). | ||
| Coriell NA10744 (m) | Positive for the 11778G>A mutation (100% mutation). | ||
| P137-B/C | SCN1A | Coriell NA10401 (f) | Heterozygous duplication of the complete SCN1A gene. |
| Coriell NA10607 (m) | Heterozygous deletion of the complete SCN1A gene. | ||
| P140-C | HBA | Coriell CD00026 (m) | Heterozygous HBQ1-HBM deletion (--SEA). |
| Coriell CD00027 (f) | Heterozygous HBQ1-HBM deletion (--SEA). | ||
| Coriell GM18933 (f) | Homozygous α3.7 deletion (type D mentioned in the product description). | ||
| Coriell HG02188 (f) | Heterozygous positive for the Hb Constant Spring mutation. | ||
| Coriell NA10797 (m) | Compound heterozygous --SEA/--FIL deletions (homozygous HBA deletion). | ||
| Coriell NA10798 (f) | Heterozygous HBQ1-HBZ deletion (--FIL). | ||
| P147-B | 1p36 region | Coriell NA22995 (m) | 1p36 deletion syndrome; heterozygous telomeric deletion (4.67-5.97 Mb). |
| P155-E | COL3A1 | Coriell NA03918 (f) | Heterozygous deletion affecting all COL3A1 probes. |
| Coriell NA10401 (f) | Heterozygous duplication affecting all COL3A1 probes. | ||
| TNXB | Coriell NA11213 (f) | Heterozygous deletion affecting all COL3A1 probes, and heterozygous duplication affecting TNXB exon 35 and CYP21A2 probes. | |
| P156-B | GALT | Coriell NA05067 (m) | Large heterozygous duplication (6.5 Mb) that includes the complete GALT gene. |
| Coriell NA01741 (m) | Homozygous deletion of the complete GALT gene. The flanking probes are not affected. | ||
| P158-D | SMAD4 | Coriell NA01359 (m) | Heterozygous duplication affecting all SMAD4 probes. |
| Coriell NA03623 (f) | Heterozygous duplication affecting all SMAD4 probes. | ||
| Coriell NA07891 (m) | Heterozygous deletion affecting all SMAD4 probes. | ||
| BMPR1A/PTEN | Coriell NA20125 (m) | Heterozygous duplication affecting all BMPR1A and PTEN probes. | |
| P163-D/E | GJB2 | Coriell NA23835 (m) | Heterozygous positive for the GJB2 35delG and the 101T>C mutations. |
| GJB2/GJB6 | Coriell NA12606 (m) | Large heterozygous duplication (42 Mb) that includes the targets of all GJB2/GJB6 probes and flanking probes. | |
| WSF1 | Coriell NA22601 (m) | Heterozygous deletion of the complete WFS1 gene. | |
| P165-C | SPAST | Coriell HG00500 (m) | Heterozygous duplication affecting probes for SPAST exon 4-17. |
| Coriell NA10401 (f) | Heterozygous duplication affecting all SPAST probes. | ||
| P175-B | ABL1 | Coriell NA13685 (f) | Gain affecting all ABL1 probes. |
| AURKA | Coriell NA08123 (m) | Gain affecting all AURKA probes. | |
| BRAF | DSMZ ACC-427 (DU-4475) (f) | Positive for the BRAF c.1799T>A (p.V600E) mutation. | |
| CCND2 | Coriell NA07981 (m) | Gain affecting all CCND2 probes. | |
| EGFR | Coriell NA07081 (m) | Gain affecting all EGFR probes. | |
| FGFR/MYC | Coriell NA02030 (m) | Gain affecting all FGFR and MYC probes. | |
| MDM4 | Coriell NA05347 (m) | Gain affecting all MDM4 probes. | |
| MET/SMO/BRAF | Coriell NA12519 (f) | Gain affecting all MET, SMO and BRAF probes. | |
| MYCN/ALK | Coriell NA10401 (f) | Gain affecting all MYCN and ALK probes. | |
| P178-B | F8 | Coriell NA02325 (f) | Heterozygous duplication affecting probes for F8 exon 1-22. |
| P189-C | CDKL5 | Coriell NA23710 (f) | Heterozygous CDKL5 intron 16-exon 18 deletion. |
| P190-D | ATM | Coriell HG03694 (m) | Heterozygous ATM exon 62-63 duplication. |
| Coriell NA08618 (m) | Large heterozygous duplication of part of 11q that includes the complete ATM gene. | ||
| CHEK2 | Coriell HG00187 (m), HG00266 (f), HG00275 (f), HG00371 (m) and NA19707 (f) are positive for the CHEK2 1100delC mutation. | ||
| Coriell HG00343 (f) | Heterozygous CHEK2 exon 9-10 deletion. | ||
| Coriell HG01872 (m) | Heterozygous CHEK2 exon 3-5 duplication. | ||
| Coriell NA07106 (m) | Duplication of the complete CHEK2 gene. The HSCB flanking probe is also affected. This cell line has a partial trisomy of chromosome 22. | ||
| P199-B | HEXA | Coriell NA00502 (m) | Heterozygous positive for the HEXA c.1274_1277dupTATC (1278insTATC) and c.1421+1G>C (IVS12+1G>C) mutations. |
| Coriell NA03184 (m) | Heterozygous duplication of the complete HEXA gene. | ||
| P202-C | 14q32.33 | Coriell NA08123 (m) | Heterozygous deletion that includes the probes on 14q32.33 (CEP170B, MTA1, CRIP2, and IGHD). |
| ERG | Coriell NA09868 (f) | Heterozygous deletion that includes the complete ERG gene and its flanking probes. | |
| CDKN2A/2B | Coriell NA01750 (m) | Heterozygous duplication that includes CDKN2A and CDKN2B. | |
| IKZF1 | Coriell NA10925 (m) | Heterozygous deletion that includes the complete IKZF1 gene and it flanking probes. | |
| Coriell NA07081 (m) | Heterozygous duplication that includes the complete IKZF1 gene and it flanking probes. | ||
| P213-B | REEP1 | Coriell HG00246 (m) | Heterozygous REEP1 exon 3-8 triplication. |
| SPG7 | Coriell HG02128 (m) | Heterozygous SPG7 exon 1-7 deletion. The upstream flanking probe is also affected. | |
| Coriell NA21108 (f) | Heterozygous duplication of the complete SPG7 gene. The upstream flanking probe is also affected. | ||
| P221-C | CRB1 | Coriell NA00214 (m) | Heterozygous deletion of the complete CRB1 gene. |
| CRX | Coriell HG02397 (m) | Heterozygous duplication of the complete CRX gene. | |
| LCA5 | Coriell HG01802 (f) | Heterozygous duplication of the complete LCA5 gene. | |
| Coriell NA10946 (m) | Heterozygous deletion of the complete LCA5 gene. | ||
| P225-E | PTEN | Coriell NA20125 (m) | Heterozygous duplication of the complete PTEN gene. Several flanking probes (between BMPR1A and HTRA1) are also affected. |
| DSMZ ACC-50 (OPM-2) (f) | Homozygous PTEN exon 3-7 deletion. This cell line also has several other aberrations. | ||
| P226-D | SDHAF2 | Coriell NA20775 (f) | Heterozygous duplication affecting probes for SDHAF2 exon 2-4. |
| SDHD | Coriell NA15099 (m) | Heterozygous duplication affecting all SDHD probes. | |
| P242-C | PRSS1 | Coriell NA11949 (f) | Heterozygous deletion affecting all PRSS1 probes. |
| 7q34 region | Coriell NA07412 (m) | Heterozygous deletion affecting the probes for BRAF, PRSS1 and CASP2. | |
| Coriell NA12519 (f) | Homozygous duplication affecting the probes for BRAF, PRSS1 and CASP2. | ||
| P244-C/D | CDKN1B | Coriell NA07981 (m) | Four copies of all probes for CDKN1B. The flanking probes are also affected. |
| P245-B | 1p36 region | Coriell NA22995 (m) | 1p36 deletion syndrome; heterozygous telomeric deletion (4.67-5.97 Mb). |
| 2q32-q33 region | Coriell NA11213 (f) | Glass syndrome deletion. | |
| 3q29 region | Coriell NA11428 (f) | 3q29 microduplication syndrome. | |
| 4p16.3 region | Coriell NA04126 (m) | Wolf-Hirschhorn syndrome deletion. | |
| 5p15 region | Coriell NA16593 (f) | Cri-du-Chat syndrome deletion (affecting one probe). | |
| 7q11.23 region | Coriell NA13464 (m) | Williams-Beuren syndrome deletion (commonly deletion region). | |
| 15q11.2 region | Coriell NA20375 (m) | Angelman syndrome. | |
| 17p11.2 region | Coriell NA13476 (f) | Smith-Magenis syndrome deletion. | |
| 17p13.3 region | Coriell NA09208 (m) | Miller-Dieker syndrome deletion. | |
| 22q11.21 region | Coriell NA02944 (m) | DiGeorge / 22q11 syndrome deletion (region AB). | |
| Xq28 region | Coriell NA23675 (m) | MECP2 duplication syndrome. | |
| Coriell NA23676 (f) | MECP2 duplication syndrome. | ||
| Coriell NA23635 (f) | Rett syndrome deletion (affecting one probe). | ||
| P248-B | MLH1/MSH2 | The NIBSC Institute provides a kit with 5 DNA samples containing heterozygous MLH1 or MSH2 exon deletions or amplifications (catalog number 11/218-XXX). | |
| P250-B | 22q11.21 region | Coriell NA02944 (m) | Heterozygous deletion from LCR-A to LCR-B and of the Cat Eye Syndrome region. |
| Coriell NA05401 (m) | Heterozygous deletion from LCR-A to LCR-B and of the Cat Eye Syndrome region. | ||
| Coriell NA07215 (f) | Heterozygous deletion of the typically deleted region (TDR), from LCR-A to LCR-D. | ||
| Coriell NA10382 (m) | Heterozygous deletion of the typically deleted region (TDR), from LCR-A to LCR-D. | ||
| Coriell NA17942 (m) | Heterozygous deletion of the typically deleted region (TDR), from LCR-A to LCR-D. | ||
| P256-C | FLCN | Coriell NA08146 (f), NA13476 (f), NA18319 (f), NA18320 (f), NA18322 (f), NA18324 (m), NA18326 (m) and NA20743 (m) have a heterozygous deletion that affects all FLCN probes. | |
| P258-C | SMARCB1 | Coriell NA02325 (f) | Heterozygous duplication affecting all SMARCB1 probes. The flanking probes are also affected. |
| Coriell NA07106 (m) | Heterozygous duplication affecting all SMARCB1 probes. The flanking probes are also affected. | ||
| P278-C | PCCA | Coriell NA06312 (m) | Heterozygous deletion of the complete PCCA gene. |
| Coriell NA22208 (f) | Heterozygous PCCA exon 13-20 deletion. | ||
| P292-B | PCDH15 | Coriell NA11672 (m) | Heterozygous deletion affecting all PCDH15 probes. |
| P294-C | 1p36 region | Coriell NA22991 (f) | Heterozygous deletion in the 1p36 region that includes the TNFRSF4 and PRDM16 genes. |
| 1p36 region | Coriell NA50276 (m) | Heterozygous deletion in the 1p36 region that includes the CHD5, CAMTA1 and KIF1B genes. | |
| 13q14 region | Coriell NA14164 (f) | Heterozygous deletion in the 13q14 region that includes the RB1, MIR15A and DLEU1 genes. | |
| APC | Coriell NA14234 (m) | Heterozygous deletion of the APC gene. | |
| PTCH1 | Coriell NA09834 (f) | Heterozygous deletion of the PTCH1 gene. | |
| SMAD4 | Coriell NA07891 (m) | Heterozygous deletion of the SMAD4 gene. | |
| VHL | Coriell NA10985 (f) | Heterozygous deletion of the VHL gene. | |
| WT1 | Coriell NA09709 (m) | Heterozygous deletion of the WT1 gene. | |
| P298-A | BRAF | Coriell NA01220 (f) | Gain of BRAF. |
| Coriell NA07412 (m) | Loss of BRAF. | ||
| Coriell NA08808 (m) | Loss of BRAF. | ||
| Coriell NA12519 (f) | Gain of BRAF. | ||
| HRAS | Coriell NA03435 (m) | Gain of HRAS. | |
| KRAS | Coriell NA07981 (m) | Gain of KRAS. | |
| P308-B | MET | Coriell NA01059 (f) | Heterozygous deletion affecting all probes for MET. Flanking probes on 7q31.2 are also affected. |
| Coriell NA12519 (f) | Homozygous duplication affecting all probes for MET. Flanking probes on 7q31.2 are also affected. | ||
| PTEN | Coriell NA20125 (m) | Heterozygous duplication affecting all probes for PTEN. | |
| P314-A | ABCA3 | Coriell NA02325 (f) | Heterozygous duplication of ABCA3. |
| Coriell NA06226 (m) | Gain of ABCA3. | ||
| P315-C | EGFR | Coriell NA07081 (m) | Heterozygous duplication of the complete EGFR gene. |
| DSMZ ACC-444 (FU-OV-1) (f) | Loss of EGFR. | ||
| P324-B | 22q11.21 region | Coriell NA05401 (m) | Heterozygous deletion from LCR-A to LCR-B and of the Cat Eye Syndrome region. |
| Coriell NA07215 (f) | Heterozygous deletion of the typically deleted region (TDR), from LCR-A to LCR-D. | ||
| Coriell NA10382 (m) | Heterozygous deletion of the typically deleted region (TDR), from LCR-A to LCR-D. | ||
| Coriell NA17942 (m) | Heterozygous deletion of the typically deleted region (TDR), from LCR-A to LCR-D. | ||
| P327-B | 21q11.2-q21.3 region | Coriell NA00692 (m) | Heterozygous deletion affecting the HSPA13, SAMSN1, MIR99A, BTG3, TMPRSS15, NCAM2, MIR155 and APP probes. |
| 21q11.2-q22.3 region | Coriell NA02571 (f) | Trisomy 21. All probes targeting chromosome 21 are affected. | |
| 21q11.2-q21.1 region | Coriell NA03503 (m) | Heterozygous duplication affecting the HSPA13, SAMSN1, MIR99A, BTG3, TMPRSS15 and NCAM2 probes. | |
| 21q11.2-q22.11 region & 21q22.3 region | Coriell NA05881 (f) | Heterozygous duplication affecting the HSPA13, SAMSN1, MIR99A, BTG3, TMPRSS15, NCAM2, MIR155, APP, CYYR1, ADAMTS5, BACH1, TIAM1 and PRMT2 probes. | |
| 21q21.3 region | Coriell NA08331 (m) | Heterozygous deletion affecting the APP, CYRR1 and ADAMTS5 probes. | |
| 21q22.13-q22.3 region | Coriell NA09868 (f) | Heterozygous deletion affecting the SIM2, HLCS, DYRK1A, KCNJ6, ERG, ETS2, PSMG1, TMPRSS2, RIPK4, TFF1, ITGB2, SLC19A1, COL6A2 and PRMT2 probes. | |
| 21q22.11 region | Coriell NA13031 (m) | Heterozygous duplication affecting the KCNE2 probe. | |
| P335-C | Various | DSMZ ACC-20 (BV-173) (f) | Heterozygous deletion of IKZF1 (exons 1-7), CDKN2A (exon 4) and PAR1 region; homozygous deletion of CDKN2A (exon 2) and CDKN2B (exon 2). |
| P337-B/C | TSC2 | Coriell NA04520 (f) | Heterozygous TSC2 exon 1-15 deletion. |
| P338-B | GBA | Coriell NA20273 (m) | Homozygous absence of GBA exon 10. |
| P348-C | ATP1A2 | Coriell NA00803 (m) | Heterozygous deletion affecting all ATP1A2 probes. |
| PRRT2 | Coriell NA05875 (f) | Heterozygous deletion affecting all PRRT2 probes. | |
| P369-A | 17p11.2 region | Coriell NA13476 (f) | Heterozygous deletion of the common chromosome 17p11.2 deletion/duplication region. |
| P370-C | 3p25.1-p26.3 region | Coriell NA03503 (m) | Heterozygous duplication affecting the CRBN, SRGAP3 and RAF1 probes. |
| Coriell NA04127 (f) | Heterozygous duplication affecting the CRBN, SRGAP3 and RAF1 probes. | ||
| 3p25.3-p26.3 region | Coriell NA10985 (f) | Heterozygous deletion affecting the CRBN and SRGAP3 probes. | |
| 6q22.33-q23.3 region | Coriell NA09367 (f) | Heterozygous duplication affecting the LAMA2 and MYB probes. | |
| 6q23.3-q24.2 region | Coriell NA07994 (m) | Heterozygous duplication affecting the MYB and PLAGL1 probes. | |
| 7q34-q35 region | Coriell NA07412 (m) | Heterozygous deletion affecting the KIAA1549, HIPK2, MKRN1, BRAF and CNTNAP2 probes. | |
| Coriell NA08808 (m) | Heterozygous deletion affecting the KIAA1549, HIPK2, MKRN1, BRAF and CNTNAP2 probes. | ||
| Coriell NA12519 (f) | Heterozygous triplication / Homozygous duplication affecting the KIAA1549, HIPK2, MKRN1, BRAF and CNTNAP2 probes. | ||
| Coriell NA01220 (f) | Heterozygous duplication affecting the MKRN1, BRAF and CNTNAP2 probes. | ||
| 8p11.23-p12 region | Coriell NA14485 (m) | Heterozygous duplication affecting the FGFR1 and TACC1 probes. | |
| 8p12-q13.1 region | Coriell NA02030 (m) | Heterozygous duplication affecting the FGFR1, TACC1 and MYBL1 probes. | |
| 9p21.3 region | Coriell NA01750 (m) | Heterozygous duplication affecting the MIR31, CDKN2A and CDKN2B probes. | |
| Coriell NA02819 (f) | Heterozygous duplication affecting the MIR31, CDKN2A and CDKN2B probes. | ||
| Coriell NA03226 (m) | Heterozygous duplication affecting the MIR31, CDKN2A and CDKN2B probes. | ||
| Coriell NA05067 (m) | Heterozygous duplication affecting the MIR31, CDKN2A and CDKN2B probes. | ||
| P378-D | MUTYH | Coriell HG00097 (f), HG01095 (f), HG01500 (m), HG01685 (f), NA19789 (m) and NA20522 (f) are heterozygous positive for the MUTYH p.G396D mutation. | |
| P405-A/B | 17p12 region | Coriell NA05167 (f) | Heterozygous duplication affecting the COX10, PMP22 and TEKT3 probes. |
| Coriell NA12214 (m) | Heterozygous duplication affecting the COX10, PMP22 and TEKT3 probes. | ||
| P414-C | 3q21.3-q26.2 region | Coriell NA03563 (m) | Heterozygous duplication affecting the GATA2 and MECOM probes. |
| 5q22.2 region | Coriell NA14234 (m) | Heterozygous deletion affecting the APC probe. | |
| 5q33.3 region | Coriell NA04371 (m) | Heterozygous duplication affecting the MIR146A probe. | |
| 7q21.2-q21.2 region | Coriell NA10160 (m) | Heterozygous deletion affecting the CDK6 and SAMD9L probes. | |
| 7q22.2-q31.2 region | Coriell NA01059 (f) | Heterozygous deletion affecting the KMT2E and MET probes. | |
| 7q36.1 region | Coriell NA01220 (f) | Heterozygous duplication affecting the EZH2 probes. | |
| Coriell NA07412 (m) | Heterozygous deletion affecting the EZH2 probes. | ||
| 8p12-q24.3 region | Coriell NA02030 (m) | Heterozygous duplication affecting the FGFR1, NCOA2, RUNX1T1, MYC and PTK2 probes. | |
| 8p12 region | Coriell NA14485 (m) | Heterozygous duplication affecting the FGFR1 probe. | |
| 8q24.21 region | Coriell NA03999 (f) | Heterozygous deletion affecting the MYC probe. | |
| 8q24.3 region | Coriell NA20263 (m) | Heterozygous deletion affecting the PTK2 probe. | |
| 11q23.3-q24.3 region | Coriell NA00959 (m) | Heterozygous duplication affecting the KMT2A, TIRAP and ETS1 probes. | |
| Coriell NA15099 (m) | Heterozygous duplication affecting the KMT2A, TIRAP and ETS1 probes. | ||
| 11q24.2-q24.3 region | Coriell NA09102 (m) | Heterozygous deletion affecting the TIRAP and ETS1 probes. | |
| 12p13.1-p13.2 region | Coriell NA07981 (m) | Triplication affecting the ETV6 and CDKN1B probes. | |
| 17q11.2-q12 region | Coriell NA02587 (m) | Heterozygous mosaic deletion affecting the NF1, SUZ12 and AATF probes. | |
| 20q11.21-q13.12 region | Coriell NA07945 (m) | Heterozygous deletion affecting the SRC and HNF4A probes. | |
| P417-B | 3p region | Coriell NA04127 (f) | Heterozygous duplication affecting probes for MLH1, RMB5, RASSF1 and ZMYND10. |
| DSMZ ACC-203 (SK-N-MC) (f) | Heterozygous deletion affecting all probes for BAP1. The flanking probes are also affected. | ||
| DSMZ ACC-512 (ARH-77) (f) | Heterozygous deletion affecting all probes for BAP1. The flanking probes are also affected. | ||
| P419-B | 9p21.3 region | DSMZ ACC-47 (DOHH-2) (m) | Homozygous deletion of MTAP, CDKN2A, CDKN2B and DMRTA1. |
| DSMZ ACC-264 (COLO-679) (f) | Heterozygous deletion of MLLT3, MIR31, MTAP and CDKN2B and homozygous deletion of CDKN2A, as well as several other aberrations. | ||
| Coriell NA03226 (m) | Heterozygous duplication of the 9p21.3 region and of PTENP1. | ||
| Coriell NA05067 (m) | Heterozygous duplication of the 9p21.3 region and of PTENP1. | ||
| CDK4 | DSMZ ACC-573 (SU-DHL-8) (f) | Heterozygous duplication of CDK4. | |
| MITF | Coriell HG00259 (f) and HG01498 (f) are positive for the MITF c.952G>A (p.E318K) mutation. | ||
| P446-A | GALC | Coriell NA04372 (m) | Heterozygous GALC exon 11-17 deletion (30 kb). |
| Coriell NA04517 (m) | Homozygous GALC exon 11-17 deletion (30 kb). | ||
| P451-B | 16p13.3-p12.1 | Coriell NA06226 (m) | Gain of 16p13.3-p12.1, affecting probes for TSC2, CREBBP, ABAT, ABCC1 and UQCRC2. |
| Coriell NA08039 (m) | Gain of 16p13.3-p12.1, affecting probes for CREBBP, ABAT, ABCC1, UQCRC2 and PALB2. | ||
| 16p11.2 | Coriell NA05875 (f) | Deletion of 16p11.2, affecting the probe for VKORC1. | |
| 16q22.1-q23.1 | Coriell NA12074 (m) | Deletion of 16q22.1-q23.1, affecting probes for CDH1, TXNL4B, DHX38, ZFHX3 and BCAR1. | |
| P453-A | GAA | Coriell NA11661 (m) | Heterozygous GAA exon 18 deletion. |
| Coriell NA16445 (m) | Large heterozygous duplication (6.5 Mb) that includes the complete GAA gene. | ||
| P456-A | EVC/EVC2 | Coriell NA22601 (m) | Heterozygous deletion of the complete EVC and EVC2 genes. |
| P458-B | CDK6 | Coriell NA10160 (m) | Deletion of CDK6. |
| EGFR | Coriell NA07081 (m) | Gain of EGFR. | |
| FGFR2 | Coriell NA08386 (f) | Gain of FGFR2. | |
| GATA6 | Coriell NA03623 (f) | Gain of GATA6. | |
| KLF5 | Coriell NA03330 (m) | Gain of KLF5. | |
| KRAS | Coriell NA07981 (m) | Gain of KRAS. | |
| MET | Coriell NA12519 (f) | Gain of MET. | |
| PIK3CA | Coriell NA10175 (m) | Gain of PIK3CA. | |
| Various | Coriell NA02030 (m) | Gain of GATA4, FGFR1, MYC and PTP4A3. | |
| DSMZ ACC-444 (FU-OV-1) (f) | Various copy number variations. | ||
| P460-A | SMN1/SMN2 | Coriell NA00232 (m) | SMN1: 0 copies; SMN2: 2 copies; g.27134T>G: 0 copies; g.27706-27707delAT: 0 copies. |
| Coriell NA03815 (m) | SMN1: 1 copy; SMN2: 1 copy; g.27134T>G: 0 copies; g.27706-27707delAT: 0 copies. | ||
| Coriell HG01773 (f) | SMN1: 1 copy; SMN2: 4 copies; g.27134T>G: 0 copies; g.27706-27707delAT: 0 copies. | ||
| Coriell NA19984 (m) | SMN1: 2 copies; SMN2: 1 copy; g.27134T>G: 1 copy; g.27706-27707delAT: 1 copy. | ||
| Coriell NA20294 (f) | SMN1: 3 copies; SMN2: 1 copy; g.27134T>G: 1 copy; g.27706-27707delAT: 1 copy. | ||
| Coriell HG02882 (f) | SMN1: 3 copies; SMN2: 1 copy; g.27134T>G: 2 copies; g.27706-27707delAT: 2 copies. | ||
| Coriell GM19235 (f) | SMN1: 4 copies; SMN2: 0 copies; g.27134T>G: 3 copies; g.27706-27707delAT: 3 copies. | ||
| P461-A | OTOA | Coriell NA08039 (m) | Heterozygous duplication of OTOA. The flanking probes on 16p12.2 are also affected. |
| Coriell NA13031 (m) | Heterozygous deletion of OTOA. The upstream flanking probes on 16p12.2 are also affected. | ||
| STRC/CATSPER2 | Coriell NA03184 (m) | Heterozygous duplication of STRC and CATSPER2. The flanking probes on 15q15.3 are also affected. | |
| P462-B | 1q region | Coriell NA05347 (m) | Duplication of MDM4. |
| 2p region | Coriell NA10401 (f) | Duplications of BCL11A and REL. | |
| 6q region | Coriell NA10946 (m) | Deletions of IBTK and EPHA7. | |
| 7q region | Coriell NA01220 (f) | Duplication of EZH2. | |
| 15q region | Coriell NA21885 (m) | Deletion of B2M. | |
| Various | Coriell NA03623 (f) | Duplications of MALT1, BCL2, BCOR and KDM6A. | |
| Coriell NA22976 (m) | Deletions of TNFRSF14 and TP73, and duplications of BCL6 and CDKN2A/2B. | ||
| DSMZ ACC-277 (DK-MG) (f) | Deletions of EPHA7, PRMD1, TNFAIP3, ARID1B, CDKN2A/2B, PTEN and FAS, duplication of EZH2, and amplification of MDM2. | ||
| DSMZ ACC-573 (SU-DHL-8) (f) | Duplications of IBTK, EPHA7, PRDM1, TNFAIP3, ARID1B, EZH2, CDK2 and CDK4. | ||
| P470-A | CLN3 | Coriell NA05875 (f) | Large heterozygous deletion (4.8 Mb) that includes the complete CLN3 gene. |
| Coriell NA20381 (f) | Heterozygous CLN3 exon 7-8 deletion. | ||
| CLN6 | Coriell NA03184 (m) | Large heterozygous duplication (82 Mb) that includes the complete CLN6 gene. | |
| P473-A | 17p/CTNS/ASPA | Coriell NA06047 (m) | Large heterozygous deletion (5.6 Mb) that includes the complete CTNS and SHPK genes. |
| P474-A | 9p24 region | Coriell NA02819 (f) | Heterozygous duplication affecting the CD274, PDCD1LG2 and JAK2 genes and all flanking probes. |
| Coriell NA03226 (m) | Heterozygous duplication affecting the CD274, PDCD1LG2 and JAK2 genes and all flanking probes. | ||
| Coriell NA05067 (m) | Heterozygous duplication affecting the CD274, PDCD1LG2 and JAK2 genes and all flanking probes. | ||
| Coriell NA10989 (m) | Heterozygous deletion affecting the CD274, PDCD1LG2 and JAK2 genes and the VLDLR and SMARCA2 flanking probes. | ||
| Coriell NA14946 (m) | Heterozygous deletion affecting the CD274, PDCD1LG2 and JAK2 genes and the VLDLR and SMARCA2 flanking probes. | ||
| JAK2 | Coriell NA13480 (f) | Heterozygous JAK2 exon 23-24 duplication. | |
| P476-A | ZNRF3 | Coriell NA02325 (f) | Heterozygous duplication of the ZNRF3 gene. The flanking probes are also affected. |
| Coriell NA07106 (m) | Heterozygous duplication of the ZNRF3 gene. The flanking probes are also affected. This cell line has a partial trisomy of chromosome 22. | ||
| P478-A | SMARCE1 | DSMZ ACC-410 (MFE-280) | Gain of SMARCE1 and all flanking probes. |
| P479-A | TCF12 | Coriell NA03184 (m) | Heterozygous duplication affecting all TCF12 probes. |
| P480-A | 4p16.3 region | Coriell NA00343 (m) | Heterozygous deletion of the 4p16.3 region, affecting all target probes. |
| Coriell NA04126 (m) | Heterozygous deletion of the 4p16.3 region, affecting all target probes. | ||
| Coriell NA22601 (m) | Heterozygous deletion of the 4p16.3 region, affecting all target probes. | ||
| P482-A | DICER1 | Coriell NA13410 (m) | Gain affecting all DICER1 probes. Flanking probes are also affected, except the RPGRIP1 probe. |
| DSMZ ACC-49 (L-363) (f) | Loss affecting all DICER1 probes. Flanking probes are also affected, except the RPGRIP1 probe. | ||
| P490-B | ADA2 | Coriell NA02944 (m) | Heterozygous deletion affecting all ADA2 probes |
| Coriell NA16362 (m) | Heterozygous duplication affecting all ADA2 probes | ||
| P520-A | JAK2 | Horizon Discovery provides a JAK2 p.V617F reference standard (catalog number HD649; HD652 is a wild type reference standard). | |
| The NIBSC Institute provides a JAK2 p.V617F WHO reference panel (catalog number 16/120). | |||
| KIT | AccuRef Quan-Plex™ NGS Reference Standard Genomic DNA (catalog number ARF-1001G-1) can be used as reference for the KIT p.D816V mutation; Onco-Ref™ Genomic DNA Reference Standard HCT116 WT (catalog number ASO-6052-1) can be used as wild-type control. | ||
| Various | SeraCare Seraseq® Myeloid Mutation DNA Mix (catalog number 0710-0408) can be used as reference for the CALR p.L367fs*46, JAK2 p.V617F, MPL p.W515L and JAK2 pN542_E543del mutations. This sample has not been tested by MRC Holland. | ||
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