Description:
COCKAYNE SYNDROME, TYPE B; CSB
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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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Black/African American
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
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| Remarks |
Fibroblasts have markedly decreased post UV light colony-forming ability; patient is CS7SE; complementation group B |
| 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 |
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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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| 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 |
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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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| Colicos MA, Haj-Ahmad Y, Valerie K, Henderson EE, Rainbow AJ, Construction of a recombinant adenovirus containing the denV gene from bacteriophage T4 which can partially restore the DNA repair deficiency in xeroderma pigmentosum fibroblasts. Carcinogenesis12:249-55 1991 |
| PubMed ID: 1704821 |
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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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| Lehmann AR, Three complementation groups in Cockayne syndrome. Mutat Res106:347-56 1982 |
| PubMed ID: 6185841 |
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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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| Arlett CF, Harcourt SA, Survey of radiosensitivity in a variety of human cell strains. Cancer Res40:926-32 1980 |
| PubMed ID: 7471106 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| 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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