GM01856

GM01856 Fibroblast

Description:

COCKAYNE SYNDROME, TYPE A; CSA
EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8; ERCC8

Affected:

Yes

Sex:

Male

Age:

13 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

Fibroblasts have markedly decreased post UV light colony-forming ability; same x-ray sensitivity as normal cells; see GM01857A Lymphoid; patient is CS3BE; complementation group A

Characterizations

Passage Frozen

Gene

ERCC8

Chromosomal Location

5q12.1

Allelic Variant 1

609412.0003; COCKAYNE SYNDROME

Identified Mutation

c.37G>T (p.GLU13*)

Gene

ERCC8

Chromosomal Location

5q12.1

Allelic Variant 2

609412.0004; COCKAYNE SYNDROME A; CSA

Identified Mutation

c.479C>T (p.Ala160Val)

Phenotypic Data

Remarks

Fibroblasts have markedly decreased post UV light colony-forming ability; same x-ray sensitivity as normal cells; see GM01857A Lymphoid; patient is CS3BE; complementation group A

Publications

Pines A, Dijk M, Makowski M, Meulenbroek EM, Vrouwe MG, van der Weegen Y, Baltissen M, French PJ, van Royen ME, Luijsterburg MS, Mullenders LH, Vermeulen M, Vermeulen W, Pannu NS, van Attikum H, TRiC controls transcription resumption after UV damage by regulating Cockayne syndrome protein A Nature communications9:1040 2017

PubMed ID: 29531219

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

Ridley AJ, Colley J, Wynford-Thomas D, Jones CJ, Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects Journal of human genetics50:151-4 2004

PubMed ID: 15744458

Rubbi CP, Milner J, Analysis of nucleotide excision repair by detection of single-stranded DNA transients. Carcinogenesis22(11):1789-96 2001

PubMed ID: 11698340

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

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

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

Leadon SA, Cooper PK, Preferential repair of ionizing radiation-induced damage in the transcribed strand of an active human gene is defective in Cockayne syndrome. Proc Natl Acad Sci U S A90(22):10499-503 1993

PubMed ID: 8248136

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

Mayne LV, Priestley A, James MR, Burke JF, Efficient immortalization and morphological transformation of human fibroblasts by transfection with SV40 DNA linked to a dominant marker. Exp Cell Res162:530-8 1986

PubMed ID: 3002824

Berger NA, Berger SJ, Catino DM, Abnormal NAD+ levels in cells from patients with Fanconi's anaemia. Nature299:271-3 1982

PubMed ID: 6810184

Cleaver JE, Normal reconstruction of DNA supercoiling and chromatin structure in cockayne syndrome cells during repair of damage from ultraviolet light. Am J Hum Genet34:566-75 1982

PubMed ID: 7102674

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

PubMed ID: 6185841

Rainbow AJ, Howes M, A deficiency in the repair of UV and gamma-ray damaged DNA in fibroblasts from Cockayne's syndrome. Mutat Res93:235-47 1982

PubMed ID: 7062933

Chan GL, Little JB, Cross-sensitivity of certain xeroderma pigmentosum and Cockayne syndrome fibroblast strains to both ionizing radiation and ultraviolet light. Mol Gen Genet181:562-3 1981

PubMed ID: 6943407

Tanaka K, Kawai K, Kumahara Y, Ikenaga M, Okada Y, Genetic complementation groups in cockayne syndrome. Somatic Cell Genet7:445-55 1981

PubMed ID: 7280930

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