Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
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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 |
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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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Ethnicity
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EGYPTIAN
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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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| Remarks |
Egyptian; XP3CA; onset of skin symptoms at age 3; photophobia; no CNS involvement; 1 similarly affected sib |
| Cleaver JE, DNA repair in human xeroderma pigmentosum group C cells involves a different distribution of damaged sites in confluent and growing cells. Nucleic Acids Res14:8155-65 1986 |
| PubMed ID: 3774554 |
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| Zamansky GB, Varying sensitivity of human skin fibroblasts to polychromatic ultraviolet light. Mutat Res160:55-60 1986 |
| PubMed ID: 3951456 |
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| Zamansky GB, Minka DF, Deal CL, Hendricks K, The in vitro photosensitivity of systemic lupus erythematosus skin fibroblasts. J Immunol134:1571-6 1985 |
| PubMed ID: 3968426 |
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| Wright WE, Toxin-antitoxin selection for isolating somatic cell fusion products between any cell types. Proc Natl Acad Sci U S A81:7822-6 1984 |
| PubMed ID: 6595662 |
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| Cleaver JE, Zelle B, Hashem N, El-Hefnawi MH, German J, Xeroderma pigmentosum patients from Egypt: II. Preliminary correlations of epidemiology, clinical symptoms and molecular biology. J Invest Dermatol77:96-101 1981 |
| PubMed ID: 7252263 |
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| Hashem N, Bootsma D, Keijzer W, Greene A, Coriell L, Thomas G, Cleaver JE, Clinical characteristics, DNA repair, and complementation groups in xeroderma pigmentosum patients from Egypt. Cancer Res40:13-8 1980 |
| PubMed ID: 7349892 |
| Passage Frozen |
3 |
| Split Ratio |
1:2 |
| 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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