GM05791

GM05791 LCL from B-Lymphocyte

Description:

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
XPC COMPLEX SUBUNIT, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPC

Affected:

Yes

Sex:

Male

Age:

No Data

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Repair Defective and Chromosomal Instability Syndromes

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

XP30BE; severe actinic damage of skin; freckling; actinic keratoses; keratocanthomas; see GM05792 Fibroblast; donor subject is a compound heterozygote: the maternal allele has a 2 bp deletion at nucleotide 1208 in exon 8 of the XPC gene (1208_1209delAA) resulting in a frameshift at codon 368 and a stop 5 codons downstream (Q368fsX373); the paternal allele has a 2 bp deletion at nucleotide 1744 in exon 8 (1744_1745delTG) resulting in a frameshift at codon 547 and a stop 25 codons downstream (H547fsX572)

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

Gene

XPC

Chromosomal Location

3p25

Allelic Variant 1

Q368fsX373; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

Identified Mutation

1208_1209delAA

Gene

XPC

Chromosomal Location

3p25

Allelic Variant 2

613208.0010; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

Identified Mutation

1744_1745delTG

Phenotypic Data

Remarks

Publications

Khan SG, Oh KS, Shahlavi T, Ueda T, Busch DB, Inui H, Emmert S, Imoto K, Muniz-Medina V, Baker CC, Digiovanna JJ, Schmidt D, Khadavi A, Metin A, Gozukara E, Slor H, Sarasin A, Kraemer KH, Reduced XPC DNA repair gene mRNA levels in clinically normal arents of xeroderma pigmentosum patients. Carcinogenesis27(1):84-94 2005

PubMed ID: 16081512