Description:
LESCH-NYHAN SYNDROME; LNS
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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 |
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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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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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| Remarks |
Fibroblasts nonviable in HAT medium |
| Vitkauskas G, Canellakis ES, Quantitation of metabolic cooperation by measurement of HGPRTase activity. Exp Cell Res156:537-43 1985 |
| PubMed ID: 2578405 |
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| Vitkauskas G, Canellakis ES, The regulation of hypoxanthine guanine phosphoribosyl transferase activity through transfer of PRPP by metabolic cooperation. Exp Cell Res152:541-51 1984 |
| PubMed ID: 6202536 |
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| Elliott GC, Rechsteiner MC, Evidence for a physiologically active nicotinamide phosphoribosyltransferase in cultured human fibroblasts. Biochem Biophys Res Commun104:996-1002 1982 |
| PubMed ID: 6176238 |
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| Schonberg S, German J, Sister chromatid exchange in cells metabolically coupled to Bloom's syndrome cells. Nature284:72-4 1980 |
| PubMed ID: 7354874 |
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| Yotti LP, Glover TW, Trosko JE, Segal DJ, Comparative study of x-ray and UV induced cytotoxicity, DNA repair, and mutagenesis in Down's syndrome and normal fibroblasts. Pediatr Res14:88-92 1980 |
| PubMed ID: 6444711 |
| |
| Schall D, Rechsteiner M, Kinetics of human chromosome loss from 3T3-human hybrid cells. Somatic Cell Genet4:661-76 1978 |
| PubMed ID: 741351 |
| Passage Frozen |
6 |
| Split Ratio |
1:5 |
| 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 |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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