GM14870

GM14870 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:

10 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

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

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

XP69TMA; Turkish; clinically affected; squamous cell carcinomas; see GM14871A Fibroblast; skin legions onset at age 1 yr; atrophy; telangiectasias; actinic keratosis; freckles; hypopigmentation; consanguinity; donor subject is homozygous for a 6 bp deletion at nucleotide 1395 in exon 8 of the XPC gene (1395_1400delTAAAGA) resulting in the deletion of codon 430 and the creation of a termination codon

Characterizations

Gene

XPC

Chromosomal Location

3p25

Allelic Variant 1

del430; no visible mRNA; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

Identified Mutation

1395_1400delTAAAGA

Gene

XPC

Chromosomal Location

3p25

Allelic Variant 2

del430; no visible mRNA; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

Identified Mutation

1395_1400delTAAAGA

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