GM06921
LCL from B-Lymphocyte
Description:
MELANOMA, CUTANEOUS MALIGNANT, 2; CMM2
CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Hereditary Cancers |
| Class |
Heritable Cancer Syndromes and other Cancers |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
LCL from B-Lymphocyte
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Gene |
CDKN2A |
| Chromosomal Location |
9p21 |
| Allelic Variant 1 |
R58X; MELANOMA, CUTANEOUS MALIGNANT, 2; CMM2 |
| Identified Mutation |
ARG58TER |
| Remarks |
Five primary melanomas; multiple pigmented dysplastic nevi; similarly affected mother and uncle; donor subject has a nonsense mutation at codon 58 (CGA to TGA) of the CDKN2A (p16) gene which results in a stop codon in place of arginine [ARG58TER (R58X)]. |
| Hussussian CJ, Struewing JP, Goldstein AM, Higgins PA, Ally DS, Sheahan MD, Clark WH, Tucker MA, Dracopoli NC, Germline p16 mutations in familial melanoma. Nat Genet8(1):15-21 1994 |
| PubMed ID: 7987387 |
| 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 |
- |
|
|