AG10032

AG10032 Fibroblast from Skin, Arm

Description:

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC

Affected:

Yes

Sex:

Male

Age:

21 YR (At Sampling)

Overview

Repository

NIA Aging Cell Culture Repository

Subcollection

Heritable Diseases

Class

Repair Defective and Chromosomal Instability Syndromes

Biopsy Source

Arm

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Arm

Race

American Indian/Alaska Native

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

ISCN

46,XY[18]

Species

Homo sapiens

Common Name

Human

Remarks

The American Indian donor (XP23BE) is clinically affected with features of sun sensitivity, freckling, over 50 skin cancers, and an astrocytoma of the spinal cord. The donor also has a cystic bone disorder of unknown origin. He has consanguineous parents and a sibling who died of X P. The biopsy was taken ante-mortem on 5/16/88 from the left upper arm. The culture was initiated using explants of minced skin tissue. The cell morphology is fibroblast-like. A lymphoblast culture from same donor is AG10033. Donor subject is homozygous for an A>C transversion at -2 in intron 5.1 of the XPC gene (IVS5.1-2A>C) resulting in an 83 bp insertion of intron 5.1 with a stop 34 codons downstream.

Characterizations

PDL at Freeze

Passage Frozen

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

83 bp ins/stop 34 codons downstream; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

Identified Mutation

IVS5.1-2A>C

Gene

XPC

Chromosomal Location

3p25

Allelic Variant 2

83 bp ins/stop 34 codons downstream; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C

Identified Mutation

IVS5.1-2A>C

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

Drané P, Compe E, Catez P, Chymkowitch P, Egly JM, Selective regulation of vitamin D receptor-responsive genes by TFIIH Molecular cell16:187-97 2004

PubMed ID: 15494306