Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
| 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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2
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Relation to Proband
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second cousin
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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 negative result with a primer for Yq11, DYS227. |
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| Remarks |
XP3RO; 2nd cousin of XP2RO (GM02415B Fibroblast); 46,XX; clinically affected |
| 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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| Chu G, Chang E, Cisplatin-resistant cells express increased levels of a factor that recognizes damaged DNA. Proc Natl Acad Sci U S A87:3324-8 1990 |
| PubMed ID: 2333286 |
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| Protic-Sabljic M, Whyte DB, Kraemer KH, Hypersensitivity of xeroderma pigmentosum cells to dietary carcinogens. Mutat Res145:89-94 1985 |
| PubMed ID: 3974607 |
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| Moshell AN, Tarone RE, Newfield SA, Andrews AD, Robbins JH, A simple and rapid method for evaluating the survival of xeroderma pigmentosum lymphoid lines after irradiation with ultraviolet light. In Vitro17:299-307 1981 |
| PubMed ID: 6263790 |
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| Berger NA, Sikorski GW, Petzold SJ, Kurohara KK, Defective poly(adenosine diphosphoribose) synthesis in xeroderma pigmentosum. Biochemistry19:289-93 1980 |
| PubMed ID: 7352988 |
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| Weerd-Kastelein EA de, Keijzer W, Bootsma D, A third complementation group in xeroderma pigmentosum. Mutat Res22:87-91 1974 |
| PubMed ID: 4842087 |
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| Kleijer WJ, Weerd-Kastelein EA de, Sluyter ML, Keijzer W, Wit J de, Bootsma D, UV-induced DNA repair synthesis in cells of patients with different forms of xeroderma pigmentosum and of heterozygotes. Mutat Res20:417-28 1973 |
| PubMed ID: 4778857 |
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