GM09942
LCL from B-Lymphocyte
Description:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; 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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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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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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| Remarks |
XP21BE; typical pigmentation & atrophy of sun exposed skin; face freckling; 1 basal cell & many cutan squam cell carcinomas; several melanomas; short stature, microcephaly, & neuro abnorms suggest Cockayne Syn; deafness and developmental delay; 35% of norm fibro unsched DNA synth; see GM09943 Fib |
| Rieckher M, Gallrein C, Alquezar-Artieda N, Bourached-Silva N, Vaddavalli PL, Mares D, Backhaus M, Blindauer T, Greger K, Wiesner E, Pontel LB, Schumacher B, Distinct DNA repair mechanisms prevent formaldehyde toxicity during development, reproduction and aging Nucleic acids research: 2024 |
| PubMed ID: 38894680 |
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| Khan SG, Levy HL, Legerski R, Quackenbush E, Reardon JT, Emmert S, Sancar A, Li L, Schneider TD, Cleaver JE, Kraemer KH, Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia. J Invest Dermatol111(5):791-6 1998 |
| PubMed ID: 9804340 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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