GM00739

GM00739 Fibroblast from Skin, Back

Description:

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

Affected:

Yes

Sex:

Female

Age:

3 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Connective Tissue, Muscle, and Bone

Biopsy Source

Back

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Back

Race

White

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

46,XX; increased UV light-induced sister chromatid exchanges and cell killing; patient is CS1AN; complementation group B; donor subject is a compound heterozygote: one allele has an A>T transversion at nucleotide 1088 in exon 5 of the ERCC6 gene (1088A>T) resulting in premature truncation of the protein [Lys377Ter (K377X)]; the second allele has a C>T transition at nucleotide 2648 in exon 15 (2648C>T) triggering an erroneous splice event resulting in a frameshift [Arg857Ter (R857X)]

Characterizations

PDL at Freeze

5.53

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

K337X; COCKAYNE SYNDROME, TYPE B

Identified Mutation

LYS337TER

Gene

ERCC6

Chromosomal Location

10q11

Allelic Variant 2

R857X; COCKAYNE SYNDROME, TYPE B

Identified Mutation

ARG857TER

Phenotypic Data

Remarks

Publications

Martins S, Hacheney I, Teichweyde N, Hildebrandt B, Krutmann J, Rossi A, Generation of an induced pluripotent stem cell line (IUFi001) from a Cockayne syndrome patient carrying a mutation in the ERCC6 gene Stem cell research55:102456 2021

PubMed ID: 34271225

Gregersen LH, Mitter R, Svejstrup JQ, Using TT Nature protocols15:604-627 2019

PubMed ID: 31915390

Rajkumar-Calkins AS, Szalat R, Dreze M, Khan I, Frazier Z, Reznichenkov E, Schnorenberg MR, Tsai YF, Nguyen H, Kochupurakkal B, D'Andrea AD, Shapiro GI, Lazaro JB, Mouw KW, Functional profiling of nucleotide Excision repair in breast cancer DNA repair82:102697 2019

PubMed ID: 31499327

Kong YW, Dreaden EC, Morandell S, Zhou W, Dhara SS, Sriram G, Lam FC, Patterson JC, Quadir M, Dinh A, Shopsowitz KE, Varmeh S, Yilmaz ÖH, Lippard SJ, Reinhardt HC, Hemann MT, Hammond PT, Yaffe MB, Enhancing chemotherapy response through augmented synthetic lethality by co-targeting nucleotide excision repair and cell-cycle checkpoints Nature communications11:4124 2018

PubMed ID: 32807787

Batenburg NL, Mitchell TR, Leach DM, Rainbow AJ, Zhu XD, Cockayne Syndrome group B protein interacts with TRF2 and regulates telomere length and stability Nucleic acids research40:9661-74 2012

PubMed ID: 22904069

Bailey AD, Gray LT, Pavelitz T, Newman JC, Horibata K, Tanaka K, Weiner AM, The conserved Cockayne syndrome B-piggyBac fusion protein (CSB-PGBD3) affects DNA repair and induces both interferon-like and innate antiviral responses in CSB-null cells DNA repair11:488-501 2011

PubMed ID: 22483866

Laugel V, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J, Lyonnet S, Murday V, Gubser-Mercati D, Funalot B, Brueton L, Sanchez Del Pozo J, Muñoz E, Gennery AR, Salih M, Noruzinia M, Prescott K, Ramos L, Stark Z, Fieggen K, Chabrol B, Sarda P, Edery P, Bloch-Zupan A, Fawcett H, Pham D, Egly JM, Lehmann AR, Sarasin A, Dollfus H, Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome Human mutation31:113-26 2009

PubMed ID: 19894250

Lee DF, Drouin R, Pitsikas P, Rainbow AJ, Detection of an involvement of the human mismatch repair genes hMLH1 and hMSH2 in nucleotide excision repair is dependent on UVC fluence to cells. Cancer Res64(11):3865-70 2004

PubMed ID: 15172995

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

Le Page F, Kwoh EE, Avrutskaya A, Gentil A, Leadon SA, Sarasin A, Cooper PK, Transcription-coupled repair of 8-oxoguanine: requirement for XPG, TFIIH, and CSB and implications for Cockayne syndrome. Cell101(2):159-71 2000

PubMed ID: 10786832

Dianov G, Bischoff C, Sunesen M, Bohr VA, Repair of 8-oxoguanine in DNA is deficient in Cockayne syndrome group B cells. Nucleic Acids Res27(5):1365-8 1999

PubMed ID: 9973627

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

Troelstra C, van Gool A, de Wit J, Vermeulen W, Bootsma D, Hoeijmakers JH, ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes. Cell71(6):939-53 1992

PubMed ID: 1339317

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

Cleaver JE, DNA repair deficiencies and cellular senescence are unrelated in xeroderma pigmentosum cell lines. Mech Ageing Dev27:189-96 1984

PubMed ID: 6492896

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

Diatloff-Zito C, Macieira-Coelho A, Effect of growth arrest on the doubling potential of human fibroblasts in vitro: a possible influence of the donor. In Vitro18:606-10 1982

PubMed ID: 6292076

Fujiwara Y, Goto K, Kano Y, Ultraviolet hypersensitivity of Cockayne's syndrome fibroblasts. Effects of nicotinamide adenine dinucleotide and poly(ADP-ribose) synthesis. Exp Cell Res139:207-15 1982

PubMed ID: 6806108

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

PubMed ID: 6185841

Mayne LV, Lehmann AR, Waters R, Excision repair in Cockayne syndrome. Mutat Res106:179-89 1982

PubMed ID: 7162528

Deschavanne PJ, Diatloff-Zito C, Macieria-Coelho A, Malaise EP, Unusual sensitivity of two cockayne's syndrome cell strains to both UV and gamma irradiation. Mutat Res91:403-6 1981

PubMed ID: 7266580

Marshall RR, Arlett CF, Harcourt SA, Broughton BA, Increased sensitivity of cell strains from Cockayne's syndrome to sister-chromatid-exchange induction and cell killing by UV light. Mutat Res69:107-12 1980

PubMed ID: 7360141

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

Andrews AD, Barrett SF, Robbins JH, Relation of D.N.A. repair processes to pathological ageing of the nervous system in xeroderma pigmentosum. Lancet1:1318-1320 1976

PubMed ID: 58310