GM02033

GM02033 Fibroblast

Description:

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

Affected:

Yes

Sex:

Male

Age:

16 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

Black/African American

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

XP3JO; Zulu; clinically affected; donor subject is homozygous G-to-A substitution at nucleotide 389 (389G>A) in exon 3 of the XPA gene which results in no splice site.

Characterizations

Passage Frozen

Gene

XPA

Chromosomal Location

9q22.3-q31

Allelic Variant 1

no splice site; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A

Identified Mutation

389G>A

Gene

XPA

Chromosomal Location

9q22.3-q31

Allelic Variant 2

no splice site; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A

Identified Mutation

389G>A

Phenotypic Data

Remarks

XP3JO; Zulu; clinically affected; donor subject is homozygous G-to-A substitution at nucleotide 389 (389G>A) in exon 3 of the XPA gene which results in no splice site.

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

Hittelman WN, Visualization of chromatin events during DNA excision repair in XP cells: deficiency in localized but not generalized chromatin events. Carcinogenesis7:1975-80 1986

PubMed ID: 3022961