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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HUNGARIAN
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Family Member
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1
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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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| Passage Frozen |
2 |
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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 |
83 bp ins/stop 34 codons downstream/del ex 5.2/stop 7 codons downstream; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
| Identified Mutation |
IVS5.1-2A>G |
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| Gene |
XPC |
| Chromosomal Location |
3p25 |
| Allelic Variant 2 |
R155X; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
| Identified Mutation |
ARG155TER |
| Remarks |
XP24BE; freckling; atrophy; numerous skin cancers including 1 malignant melanoma and more than 100 basal cell carcinomas; no neurological abnormalities; see GM11637 Lymphoid; donor subject is a compound heterozygote: the maternal allele has an A>G transition at -2 in intron 5.1 of the XPC gene (IVS5.1-2A>G) resulting in an 83 bp insertion of intron 5.1 with a stop 34 codons downstream and the deletion of exon 5.2 with a stop 7 codons downstream; the paternal allele has a C>T transition at nucleotide 568 in exon 4 (568C>T) resulting in nonsense mutation at Arg155 [Arg155Ter (R155X)] |
| Parshad R, Sanford KK, Kraemer KH, Jones GM, Tarone RE, Carrier detection in xeroderma pigmentosum. J Clin Invest85:135-8 1990 |
| PubMed ID: 2295692 |
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| Kraemer KH, DiGiovanna JJ, Moshell AN, Tarone RE, Peck GL, Prevention of skin cancer in xeroderma pigmentosum with the use of oral isotretinoin. N Engl J Med318:1633-7 1988 |
| PubMed ID: 3287161 |
| Passage Frozen |
2 |
| 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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