GM01098

GM01098 Fibroblast

Description:

COCKAYNE SYNDROME, TYPE B; CSB
EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6

Affected:

Yes

Sex:

Male

Age:

20 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Connective Tissue, Muscle, and Bone

Class

Repair Defective and Chromosomal Instability Syndromes

Cell Type

Fibroblast

Transformant

Untransformed

Race

White

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; subject alternate ID is CS2BE or CS5HO; complementation group B; 46,XY; sensitive to UV irradiation; pigmentary retinopathy symptoms; gait defect; donor subject is a compound heterozygote: one allele has a 1 bp deletion at nucleotide 3614 in exon 18 of the ERCC6 gene (3614delT) causing a frameshift beginning at codon 1179 and ending with a stop codon at 1200 (1179fsX1200); the second allele has a deletion of exon 10 (del665_723); see GM01712 Lymphoid;

Characterizations

PDL at Freeze

6.28

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

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

Gene

ERCC6

Chromosomal Location

10q11

Allelic Variant 1

1179fsX1200; COCKAYNE SYNDROME, TYPE B

Identified Mutation

3614delT

Gene

ERCC6

Chromosomal Location

10q11

Allelic Variant 2

deleted exon 10; COCKAYNE SYNDROME, TYPE B

Identified Mutation

DEL EX10

Phenotypic Data

Remarks

Publications

Fishel ML, Gamcsik MP, Delaney SM, Zuhowski EG, Maher VM, Karrison T, Moschel RC, Egorin MJ, Dolan ME, Role of glutathione and nucleotide excision repair in modulation of cisplatin activity with O6-benzylguanine Cancer chemotherapy and pharmacology55:333-42 2004

PubMed ID: 15723259

Tuo J, Jaruga P, Rodriguez H, Bohr VA, Dizdaroglu M, Primary fibroblasts of Cockayne syndrome patients are defective in cellular repair of 8-hydroxyguanine and 8-hydroxyadenine resulting from oxidative stress. FASEB J17(6):668-74 2003

PubMed ID: 12665480

Cleaver JE, Thompson LH, Richardson AS, States JC, A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. Hum Mutat14(1):9-22 1999

PubMed ID: 10447254

Mallery DL, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR, Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. Am J Hum Genet62(1):77-85 1998

PubMed ID: 9443879

Abramova NA, Russell J, Botchan M, Li R, Interaction between replication protein A and p53 is disrupted after UV damage in a DNA repair-dependent manner. Proc Natl Acad Sci U S A94:7186-91 1997

PubMed ID: 9207066

Balajee AS, May A, Dianov GL, Friedberg EC, Bohr VA, Reduced RNA polymerase II transcription in intact and permeabilized Cockayne syndrome group B cells. Proc Natl Acad Sci U S A94(9):4306-11 1997

PubMed ID: 9113985

Tu Y, Bates S, Pfeifer GP, Sequence-specific and domain-specific DNA repair in xeroderma pigmentosum and Cockayne syndrome cells. J Biol Chem272:20747-55 1997

PubMed ID: 9252397

Bregman DB, Halaban R, van Gool AJ, Henning KA, Friedberg EC, Warren SL, UV-induced ubiquitination of RNA polymerase II: a novel modification deficient in Cockayne syndrome cells. Proc Natl Acad Sci U S A93:11586-90 1996

PubMed ID: 8876179

Wang G, Seidman MM, Glazer PM, Mutagenesis in mammalian cells induced by triple helix formation and transcription-coupled repair. Science271(5250):802-5 1996

PubMed ID: 8628995

Kantor GJ, Bastin SA, Repair of some active genes in Cockayne syndrome cells is at the genome overall rate. Mutat Res336(3):223-33 1995

PubMed ID: 7739610

Jaeken J, Klocker H, Schwaiger H, Bellmann R, Hirsch-Kauffmann M, Schweiger M, Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome. Hum Genet83:339-46 1989

PubMed ID: 2478446

Hurt MM, Moses RE, Conversion of replicative intermediates in human DNA-repair defective cells. Exp Cell Res163:396-404 1986

PubMed ID: 3956584

Coohill TP, Moore SP, Grider RA, Action spectra (254-302 nm) for four human photosensitive cell lines. Photochem Photobiol38:105-7 1983

PubMed ID: 6622549

Lehmann AR, Three complementation groups in Cockayne syndrome. Mutat Res106:347-56 1982

PubMed ID: 6185841

Arlett CF, Harcourt SA, Survey of radiosensitivity in a variety of human cell strains. Cancer Res40:926-32 1980

PubMed ID: 7471106

Andrews AD, Barrett SF, Yoder FW, Robbins JH, Cockayne's syndrome fibroblasts have increased sensitivity to ultraviolet light but normal rates of unscheduled DNA synthesis. J Invest Dermatol70:237-9 1978

PubMed ID: 641373

Moses RE, Beaudet AL, Apurinic DNA endonuclease activities in repair-deficient human cell lines. Nucleic Acids Res5:463-73 1978

PubMed ID: 634794