GM16687
Fibroblast from Skin, Unspecified
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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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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Fibroblast from Skin, Unspecified
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Race
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White
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Ethnicity
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JEWISH
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Family Member
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4
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Relation to Proband
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father
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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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| Gene |
XPC |
| Chromosomal Location |
3p25 |
| Allelic Variant 1 |
613208.0006; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
| Identified Mutation |
2-BP DEL, 669AT; Slor et al. [J. Invest. Derm. 115: 974-980 (2000)] reported
a homozygous A-T deletion of 2 bases (669-670) in exon 5 of the XPC gene
in two Israeli sibs with severe xeroderma pigmentosum symptoms. The
mutation, which was expected to encode a truncated xeroderma
pigmentosumcomplementation group C protein, resulted in a new termination
site 10 codons downstream. Cultured skin fibroblasts from both patients
showed reductions in postultraviolet survival (11% of normal), unscheduled
DNA synthesis (10% of normal), global genome DNA repair (15% of normal),
and plasmid host cell reactivation (5% of normal). Transcription-coupled
DNA repair was normal, however. Northern blot analysis revealed greatly
reduced xeroderma pigmentosum complementation group C mRNA. Sun
protection delayed the onset of skin cancer and prolonged life in the
second sib. |
| Remarks |
XPH27TA; Ashkenazi Jewish; father of two affected children (GM16684 and GM16685) and spouse of GM16686; one allele of the XPC gene carries a 2 bp deletion in exon 5 of the XPC gene (669_670delAT) resulting in premature termination 10 codons downstream (C223fsX233) |
| Slor H, Batko S, Khan SG, Sobe T, Emmert S, Khadavi A, Frumkin A, Busch DB, Albert RB, Kraemer KH, Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life. J Invest Dermatol115(6):974-80 2000 |
| PubMed ID: 11121128 |
| 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 |
20% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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