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 |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
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 |
600160.0009; MELANOMA, CUTANEOUS MALIGNANT, 2; CMM2 |
| Identified Mutation |
24-BP DUP; Pollock et al. [Hum. Mutat. 11: 424-431 (1998)] identified two new melanoma (1550601) kindreds that carried a duplication of a 24-bp repeat present in the 5’-prime region of the CDKN2A gene. This brought to a total of five the number of melanoma families described with this mutation; the five families were from three continents: Europe, North American, and Australasia. |
| Remarks |
Clinically normal but with dysplastic nevi; at risk for developing melanoma; donor subject has a 24 bp duplication 5’ to the start codon which introduces a new start codon. |
|
|