Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
XPC COMPLEX SUBUNIT, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPC
Repository
|
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 |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Ethnicity
|
HUNGARIAN
|
Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
2 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
|
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 |
|
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 |
|
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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