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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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 |
11 |
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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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| hypoxanthine phosphoribosyltransferase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.4.2.8; 0% activity. |
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| Remarks |
No detectable HPRT activity; formerly GM00029 |
| Bols NC, Mosser DD, Boliska SA, Transfer of purine metabolites between cells through the medium and via cell contacts in cocultures of HGPRT+ and HGPRT- cells. Exp Cell Res173:206-17 1987 |
| PubMed ID: 3678380 |
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| 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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| Boliska SA, Bols NC, The transfer of purine metabolites via the medium rather than through cell contacts. Exp Cell Res141:303-12 1982 |
| PubMed ID: 7140841 |
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| Bunn CL, Tarrant GM, Limited lifespan in somatic cell hybrids and cybrids. Exp Cell Res127:385-96 1980 |
| PubMed ID: 7379871 |
| Passage Frozen |
11 |
| 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 |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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