Description:
COCKAYNE SYNDROME, TYPE A; CSA
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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 |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| Remarks |
HLA type: A9,A11;B7,Bw15; see GM01856B Fibroblast; fibroblasts show markedly decreased post UV light colony-forming ability and same x-ray sensitivity as normal cells; patient is CS3BE |
| Kim N, Kage K, Matsuda F, Lefranc MP, Storb U, B lymphocytes of xeroderma pigmentosum or Cockayne syndrome patients with inherited defects in nucleotide excision repair are fully capable of somatic hypermutation of immunoglobulin genes. J Exp Med186:413-9 1997 |
| PubMed ID: 9236193 |
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| Hansson J, Keyse SM, Lindahl T, Wood RD, DNA excision repair in cell extracts from human cell lines exhibiting hypersensitivity to DNA-damaging agents. Cancer Res51:3384-90 1991 |
| PubMed ID: 2054778 |
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| Sequin, Ultraviolet light-induced chromosomal aberrations in cultured cells from Cockayne syndrome & complementation group C xeroderma pigmentosum patients: Lack of correlation with cancer susceptibility. Am J Hum Genet42:468 (1988):3384-90 1988 |
| PubMed ID: 2054778 |
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| Fernsten PD, Pekny KW, Reisfeld RA, Walker LE, Antigens associated with human squamous cell lung carcinoma defined by murine monoclonal antibodies. Cancer Res46:2970-7 1986 |
| PubMed ID: 3009005 |
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| Otsuka F, Kukita A, Ultraviolet hypersensitivity of Cockayne syndrome lymphoblastoid lines-- the effects of exogenous beta-nicotinamide adenine dinucleotide. Photochem Photobiol44:757-60 1986 |
| PubMed ID: 3562572 |
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| Walker LE, Ketler TA, Houghten RA, Schulz G, Chersi A, Reisfeld RA, Human major histocompatibility complex class I antigens: residues 61-83 of the HLA-B7 heavy chain specify an alloreactive site. Proc Natl Acad Sci U S A82:539-42 1985 |
| PubMed ID: 3881768 |
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