GM04490

GM04490 LCL from B-Lymphocyte

Description:

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

Affected:

Yes

Sex:

Female

Age:

7 YR (At Sampling)

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

Black/African American

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

XP25BE; freckling; photophobia; eye lesions; see GM04489 Fibroblast; donor subject is homozygous for a 2 bp deletion in intron 11 of the XPC gene (IVS11-1_IVS11-2delAG)and a 2 bp insertion between -6 and -7 (IVS11-6_IVS11-7insCC) leading to three alternately spliced XPC mRNA isoforms: one with exon 12 skipped, one with the deletion of 44 bp at the 5' end of exon 12, and one with retention of intron 11

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

Gene

XPC

Chromosomal Location

3p25

Allelic Variant 1

skipped ex 12; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

Identified Mutation

IVS11-1_IVS11-2delAG; IVS11-6_IVS11-7insCC

Gene

XPC

Chromosomal Location

3p25

Allelic Variant 2

skipped ex 12; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

Identified Mutation

IVS11-1_IVS11-2delAG; IVS11-6_IVS11-7insCC

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