Description:
COCKAYNE SYNDROME, TYPE A; CSA
EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8; ERCC8
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
7 |
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| Gene |
ERCC8 |
| Chromosomal Location |
5q12.1 |
| Allelic Variant 1 |
609412.0003; COCKAYNE SYNDROME |
| Identified Mutation |
c.37G>T (p.GLU13*) |
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| Gene |
ERCC8 |
| Chromosomal Location |
5q12.1 |
| Allelic Variant 2 |
609412.0004; COCKAYNE SYNDROME A; CSA |
| Identified Mutation |
c.479C>T (p.Ala160Val) |
| 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 |
| 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 |
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| 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 |
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| 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 |
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| Rubbi CP, Milner J, Analysis of nucleotide excision repair by detection of single-stranded DNA transients. Carcinogenesis22(11):1789-96 2001 |
| PubMed ID: 11698340 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| Berger NA, Berger SJ, Catino DM, Abnormal NAD+ levels in cells from patients with Fanconi's anaemia. Nature299:271-3 1982 |
| PubMed ID: 6810184 |
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| 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 |
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| Lehmann AR, Three complementation groups in Cockayne syndrome. Mutat Res106:347-56 1982 |
| PubMed ID: 6185841 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
| Passage Frozen |
7 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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