Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
XPC COMPLEX SUBUNIT, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; 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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Family Member
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2
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Relation to Proband
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brother
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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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| Passage Frozen |
2 |
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| Gene |
XPC |
| Chromosomal Location |
3p25 |
| Allelic Variant 1 |
613208.0010; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
| Identified Mutation |
1744_1745delTG |
| |
| Gene |
XPC |
| Chromosomal Location |
3p25 |
| Allelic Variant 2 |
613208.0010; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
| Identified Mutation |
1744_1745delTG |
| Remarks |
Egyptian; XP8CA; no clinical symptoms of XP at time of biopsy but fibroblasts show defective DNA repair; onset of skin symptoms at age 4 months; no photophobia, CNS involvement, or skin neoplasia; 1 similarly affected sib |
| Ridley AJ, Colley J, Wynford-Thomas D, Jones CJ, Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects Journal of human genetics50:151-4 2004 |
| PubMed ID: 15744458 |
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| Azzam EI, Nagasawa H, Yu Y, Li CY, Little JB, Cell cycle deregulation and xeroderma pigmentosum group C cell transformation. J Invest Dermatol119(6):1350-4 2002 |
| PubMed ID: 12485438 |
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| Baxter BK, Smerdon MJ, Nucleosome unfolding during DNA repair in normal and xeroderma pigmentosum (group C) human cells. J Biol Chem273:17517-24 1998 |
| PubMed ID: 9651343 |
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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 |
2 |
| 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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