GM16092
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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East Indian
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Ethnicity
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PAKISTANI
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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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| 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 |
; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC |
| Identified Mutation |
c.2152C>T (p.Arg718Ter) |
| |
| Gene |
XPC |
| Chromosomal Location |
3p25 |
| Allelic Variant 2 |
; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC |
| Identified Mutation |
c.2152C>T (p.Arg718Ter) |
| Remarks |
Xeroderma pigmentosum complementation group C; UVC irradiation induces less than 10% of normal unscheduled DNA synthesis; several facial tumors; cells show unusual sensitivity to ionizing radiation; some features of Fanconi anemia are present including gradual and late onset of pancytopenia, short stature, and good response to androgen therapy; cells do not show increased chromosomal sensitivity to mytomycin C or diepoxybutane; parents are second cousins; SV40 (pSV3neo) transformed version of this cell line is GM16093 |
| Salob SP, Webb DK, Atherton DJ, A child with xeroderma pigmentosum and bone marrow failure. Br J Dermatol126(4):372-4 1992 |
| PubMed ID: 1571258 |
| Split Ratio |
1:2 |
| 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 |
10% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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