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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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 |
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 |
del430; no visible mRNA; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
| Identified Mutation |
1395_1400delTAAAGA |
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| Gene |
XPC |
| Chromosomal Location |
3p25 |
| Allelic Variant 2 |
del430; no visible mRNA; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
| Identified Mutation |
1395_1400delTAAAGA |
| Remarks |
XP69TMA; Turkish; clinically affected; squamous cell carcinomas; see GM14870A Lymphoblast; skin legions onset at age 1 year; atrophy; telangiectasias; actinic keratosis; freckles; hypopigmentation; consanguinity; donor subject is homozygous for a 6 bp deletion at nucleotide 1395 in exon 8 of the XPC gene (1395_1400delTAAAGA) resulting in the deletion of codon 430 and the creation of a termination codon |
| Passage Frozen |
1 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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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