GM16533
LCL from B-Lymphocyte
Description:
MELANOMA, CUTANEOUS MALIGNANT, 2; CMM2
CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers |
| Class |
Heritable Cancer Syndromes and other Cancers |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
CDKN2A |
| Chromosomal Location |
9p21 |
| Allelic Variant 1 |
600160.0003; MELANOMA, CUTANEOUS MALIGNANT, 2; CMM2 |
| Identified Mutation |
19-BP DEL; Gruis et al. [Nature Genet. 10: 351-353 (1995)] analyzed CDKN2A coding sequences in 15 Dutch FAMMM syndrome pedigrees and identified a 19-bp germline deletion in 13 of them. [In addition to the 19-bp deletion of CDKN2A (p16), which does by the name of Leiden, there is at least one familial hypercholesterolemia Leiden (143890.0041), factor V Leiden (227400.0001), apoE3 Leiden (107741.006) and a hemoglobin Leiden (141900.0156)]. |
| Remarks |
Three primary melanomas removed; also has dysplastic nevi; donor subject has a 19-bp deletion in exon 2 of the CDKN2A (p16) gene, referred to as the p16 Leiden mutation. |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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