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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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 |
9 |
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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 |
613208.0004; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C |
| Identified Mutation |
2-BP DEL, 1132AA; In cell line XP1BE-L1, Li et al. [Nature Genet. 5: 413-417, (1993)] found deletion of the dinucleotide AA at positions 1132 and 1133 in the cDNA of the XPC gene. This was predicted to result in premature termination of the protein by a new stop codon 15 nucleotides downstream. The deletion appeared to be either homozygous or hemizygous. |
| Remarks |
XP1BE; 10-20% of normal UV induced unscheduled DNA synthesis; see GM02246 (lymphoblastoid); skin manifestations but no neurological abnormalities; developed freckles by age 2; 1st tumor at age 4; by age 28, over 100 neoplasma, including malignant melanomas, developed; corneal edema; the donor subject carries a deletion of the dinucleotide AA at positions 1132 and 1133 in the cDNA of the XPC gene, resulting in premature termination of the protein by a new stop codon 15 nucleotides downstream. The deletion may be either homozygous or hemizygous. |
| Moralez A, Busby WH Jr, Clemmons D, Control of insulin-like growth factor binding protein-5 protease synthesis and
secretion by human fibroblasts and porcine aortic smooth muscle cells. Endocrinology144(6):2489-95 2003 |
| PubMed ID: 12746311 |
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| 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 |
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| Cleaver JE, Thompson LH, Richardson AS, States JC, A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum,
Cockayne syndrome, and trichothiodystrophy. Hum Mutat14(1):9-22 1999 |
| PubMed ID: 10447254 |
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| Kantor GJ, Hull DR, The rate of removal of pyrimidine dimers in quiescent cultures of normal human
and xeroderma pigmentosum cells. Mutat Res132(1-2):21-31 1984 |
| PubMed ID: 6472315 |
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| Robbins JH, Kraemer KH, Lutzner MA, Festoff BW, Coon HG, Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. Ann Intern Med80:221-48 1974 |
| PubMed ID: 4811796 |
| Passage Frozen |
9 |
| 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 |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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