GM14930
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 |
19 |
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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 |
XPCS2LV; SV40 virus-transformed GM13370; clinical features of Cockayne syndrome with biochemical defect typical of XP; severe psychomotor retardation and microcephaly; dysplastic ears; large extremities; absent visual and auditory evoked potentials; salt and pepper retinitis pigmentosum |
| 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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| Rajkumar-Calkins AS, Szalat R, Dreze M, Khan I, Frazier Z, Reznichenkov E, Schnorenberg MR, Tsai YF, Nguyen H, Kochupurakkal B, D'Andrea AD, Shapiro GI, Lazaro JB, Mouw KW, Functional profiling of nucleotide Excision repair in breast cancer DNA repair82:102697 2019 |
| PubMed ID: 31499327 |
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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 |
19 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
10% |
| 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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