Description:
COCKAYNE SYNDROME, TYPE B; CSB
EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6
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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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| PDL at Freeze |
6.28 |
| Passage Frozen |
10 |
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| 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 |
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| Gene |
ERCC6 |
| Chromosomal Location |
10q11 |
| Allelic Variant 1 |
1179fsX1200; COCKAYNE SYNDROME, TYPE B |
| Identified Mutation |
3614delT |
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| Gene |
ERCC6 |
| Chromosomal Location |
10q11 |
| Allelic Variant 2 |
deleted exon 10; COCKAYNE SYNDROME, TYPE B |
| Identified Mutation |
DEL EX10 |
| 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; |
| 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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| 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 |
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| 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 |
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| 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 |
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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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| 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 |
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| 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 |
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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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| 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 |
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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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| 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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| Hurt MM, Moses RE, Conversion of replicative intermediates in human DNA-repair defective cells. Exp Cell Res163:396-404 1986 |
| PubMed ID: 3956584 |
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| 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 |
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| Lehmann AR, Three complementation groups in Cockayne syndrome. Mutat Res106:347-56 1982 |
| PubMed ID: 6185841 |
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| Arlett CF, Harcourt SA, Survey of radiosensitivity in a variety of human cell strains. Cancer Res40:926-32 1980 |
| PubMed ID: 7471106 |
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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 |
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| Moses RE, Beaudet AL, Apurinic DNA endonuclease activities in repair-deficient human cell lines. Nucleic Acids Res5:463-73 1978 |
| PubMed ID: 634794 |
| Passage Frozen |
10 |
| Split Ratio |
1:2 |
| 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 |
| Supplement |
- |
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