GM16534

GM16534 LCL from B-Lymphocyte

Description:

MELANOMA, CUTANEOUS MALIGNANT, 2; CMM2
CYCLIN-DEPENDENT KINASE INHIBITOR 2A; CDKN2A

Affected:

Yes

Sex:

Male

Age:

49 YR (At Sampling)

Overview

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

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Melanoma diagnosed at 33; two 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.

Characterizations

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

600160.0003; 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)].

Phenotypic Data

Remarks

Melanoma diagnosed at 33; two 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.