GM02062

GM02062 Fibroblast

Description:

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
XPA, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPA

Affected:

Yes

Sex:

Male

Age:

3 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Nucleotide and Nucleic Acid Metabolism

Class

Repair Defective and Chromosomal Instability Syndromes

Cell Type

Fibroblast

Transformant

Untransformed

Race

White

Relation to Proband

proband

Confirmation

Clinical summary/Case history

ISCN

46,XY

Species

Homo sapiens

Common Name

Human

Remarks

XP5PD; 46,XY; clinically affected; the donor subject is a compound heterozygote for two mutations in the XPA gene: one allele carries a G-to-C substitution at nucleotide 555 (555G>C) in exon 4 with results in a missplice and the second allele carries a G-to-T substitution at nucleotide 631 (631G>T) which alters the arg-211 codon (CGA) to a nonsense codon (TGA) in exon 5 [Arg211TER (R211X)].

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Chromosome Analysis

Gene

XPA

Chromosomal Location

9q22.3-q31

Allelic Variant 1

missplice; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A

Identified Mutation

555G>C

Gene

XPA

Chromosomal Location

9q22.3-q31

Allelic Variant 2

R211X; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A

Identified Mutation

ARG211TER

Phenotypic Data

Remarks

Publications

States JC, McDuffie ER, Myrand SP, McDowell M, Cleaver JE, Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein. Hum Mutat12:103-13 1998

PubMed ID: 9671271

Satokata I, Tanaka K, Miura N, Narita M, Mimaki T, Satoh Y, Kondo S, Okada Y, Three nonsense mutations responsible for group A xeroderma pigmentosum. Mutat Res273:193-202 1992

PubMed ID: 1372102

Satokata I, Tanaka K, Yuba S, Okada Y, Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum. Mutat Res273:203-12 1992

PubMed ID: 1372103

Satokata I, Tanaka K, Miura N, Miyamoto I, Satoh Y, Kondo S, Okada Y, Characterization of a splicing mutation in group A xeroderma pigmentosum. Proc Natl Acad Sci U S A87:9908-12 1990

PubMed ID: 1702221

Cleaver JE, DNA repair deficiencies and cellular senescence are unrelated in xeroderma pigmentosum cell lines. Mech Ageing Dev27:189-96 1984

PubMed ID: 6492896