GM15722

GM15722 LCL from B-Lymphocyte

Description:

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

Affected:

No Data

Sex:

Female

Age:

No Data

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

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Ethnicity

TURKISH

Family Member

Relation to Proband

mother

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

XPH97TMA; Turkish; obligate heterozygote; affected son is GM14867 Fibroblast and affected daughter is GM14868A; see GM15721 Fibroblast; donor subject is heterozygous for a C>T nonsense mutation in exon 8 at nucleotide 1840 (1840C>T) which converts the CGA codon of arginine at amino acid 579 to a UGA stop codon resulting in marked truncation at codon 940 in the XPC gene

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

Gene

XPC

Chromosomal Location

3p25

Allelic Variant 1

613208.0007; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

Identified Mutation

ARG579TER; Gozukara et al. (J. Invest. Derm. 117: 197-204, 2001) found a C-to-T transition at nucleotide 1840 in XPC exon 8, which converted arginine-579 to a stop codon (R579X). This change leads to a truncation of the XPC protein at amino acid 579 rather than at its full length of 940 amino acids.