GM14931
Fibroblast from Skin, Unspecified
Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| 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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Simian Virus 40
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Sample Source
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Fibroblast from Skin, Unspecified
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Race
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White
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Ethnicity
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FLEMISH
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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 |
14 |
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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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| Remarks |
XPCS1LV; SV40 virus-transformed GM13371; clinical features of Cockayne syndrome with biochemical defect typical of XP; severe psychomotor retardation; microcephaly; skin very sensitive to sunlight; salt-and-pepper retinal pigmentation; retinal artery narrow |
| Taupelet F, Donnio LM, Magnani C, Mari PO, Giglia-Mari G, A stable XPG protein is required for proper ribosome biogenesis: Insights on the phenotype of combinate Xeroderma Pigmentosum/Cockayne Syndrome patients PloS one17:e0271246 2022 |
| PubMed ID: 35802638 |
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| Actis M, Inoue A, Evison B, Perry S, Punchihewa C, Fujii N, Small molecule inhibitors of PCNA/PIP-box interaction suppress translesion DNA synthesis Bioorganic & medicinal chemistry21:1972-7 2012 |
| PubMed ID: 23395113 |
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| Muheim-Lenz R, Buterin T, Marra G, Naegeli H, Short-patch correction of C/C mismatches in human cells Nucleic acids research32:6696-705 2004 |
| PubMed ID: 15613598 |
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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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| Vermeulen W, Jaeken J, Jaspers NG, Bootsma D, Hoeijmakers JH, Xeroderma pigmentosum complementation group G associated with Cockayne syndrome. Am J Hum Genet53:185-92 1993 |
| PubMed ID: 8317483 |
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| Jaeken J, Klocker H, Schwaiger H, Bellmann R, Hirsch-Kauffmann M, Schweiger M, Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome. Hum Genet83:339-46 1989 |
| PubMed ID: 2478446 |
| Passage Frozen |
14 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
8% |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) 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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