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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Black/African American
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Family Member
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4
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Relation to Proband
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maternal cousin
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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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| hypoxanthine phosphoribosyltransferase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.4.2.8 |
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| Remarks |
G6PD type A; HPRT deficient; son of GM00318; 2 affected brothers and 1 affected maternal cousin |
| Francke U, Bakay B, Connor JD, Coldwell JG, Nyhan WL, Linkage relationships of X-linked enzymes glucose-6-phosphate dehydrogenase and hypoxanthine guanine phosphoribosyltransferase: recombination in female offspring of compound heterozygotes. Am J Hum Genet26:512-22 1974 |
| PubMed ID: 4842775 |
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| Nyhan WL, Bakay B, Connor JD, Marks JF, Keele DK, Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome. Proc Natl Acad Sci U S A65:214-8 1970 |
| PubMed ID: 5263751 |
| Passage Frozen |
11 |
| Split Ratio |
1:3 |
| 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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