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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Family Member
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2
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Relation to Proband
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mother
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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 |
Two populations of cells: one showing no significant uptake and the other showing normal uptake of tritiated hypoxanthine by autoradiography; HPRT+ / HPRT |
| Belair C, Sim S, Kim KY, Tanaka Y, Park IH, and IH, Wolin SL, The RNA exosome nuclease complex regulates human embryonic stem cell differentiation The Journal of cell biology: 2018 |
| PubMed ID: 31308215 |
| |
| Newcomb B1, Rhein C1,2, Mileva I1, Ahmad R3, Clarke CJ1, Snider J1, Obeid LM1,4, Hannun YA, Identification of an acid sphingomyelinase ceramide kinase pathway in the regulation of the chemokine CCL5 Journal of Lipid Research59:1219-1229 2018 |
| PubMed ID: 29724781 |
| |
| Bruck T, Yanuka O, Benvenisty N, Human Pluripotent Stem Cells with Distinct X Inactivation Status Show Molecular and Cellular Differences Controlled by the X-Linked ELK-1 Gene Cell Rep.4(2):262-70 2013 |
| PubMed ID: 23871667 |
| |
| Boggs BA, Nussbaum RL, Two anonymous X-specific human sequences detecting restriction fragment length polymorphisms in region Xq26----qter. Somat Cell Mol Genet10:607-13 1984 |
| PubMed ID: 6095463 |
| |
| Nussbaum RL, Crowder WE, Nyhan WL, Caskey CT, A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man. Proc Natl Acad Sci U S A80:4035-9 1983 |
| PubMed ID: 6306659 |
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| Torrelio BM, Paz MA, Increased phosphoribosylpyrophosphate synthetase activity in fibroblasts of hypoxanthine-guanine phosphoribosyl transferase deficient patients. Biochem Biophys Res Commun87:380-7 1979 |
| PubMed ID: 220971 |
| Passage Frozen |
6 |
| Split Ratio |
1:4 |
| 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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