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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TURKISH
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Family Member
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2
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Relation to Proband
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sister
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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 |
1 |
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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 |
XPC |
| Chromosomal Location |
3p25 |
| Allelic Variant 1 |
613208.0007; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
| Identified Mutation |
ARG579TER; Gozukara et al. (J. Invest. Derm. 117: 197-204, 2001) found a C-to-T transition at nucleotide 1840 in XPC exon 8, which converted arginine-579 to a stop codon (R579X). This change leads to a truncation of the XPC protein at amino acid 579 rather than at its full length of 940 amino acids. |
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| Gene |
XPC |
| Chromosomal Location |
3p25 |
| Allelic Variant 2 |
613208.0007; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
| Identified Mutation |
ARG579TER; Gozukara et al. (J. Invest. Derm. 117: 197-204, 2001) found a C-to-T transition at nucleotide 1840 in XPC exon 8, which converted arginine-579 to a stop codon (R579X). This change leads to a truncation of the XPC protein at amino acid 579 rather than at its full length of 940 amino acids. |
| Remarks |
XP68TMA; Turkish; clinically affected; affected brother is GM14867; skin lesions onset at age 6 mos; skin carcinomas; atrophy; telangiectasias; actinic keratosis; freckles; hypopigmentation; consanguinity; donor subject is homozygous for a C>T nonsense mutation in exon 8 at nucleotide 1840 (1840C>T) which converts the CGA codon of arginine at amino acid 579 to a UGA stop codon resulting in marked truncation at codon 940 in the XPC gene |
| Gozukara EM, Khan SG, Metin A, Emmert S, Busch DB, Shahlavi T, Coleman DM, Miller M, Chinsomboon N, Stefanini M, Kraemer KH, A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor. J Invest Dermatol117(2):197-204 2001 |
| PubMed ID: 11511294 |
| Passage Frozen |
1 |
| Split Ratio |
1:5 |
| 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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