NA03467
DNA from Fibroblast
Description:
LESCH-NYHAN SYNDROME; LNS
HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1; HPRT1; HPRT
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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 |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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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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| Passage Frozen |
10 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase 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 |
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| Gene |
HPRT1 |
| Chromosomal Location |
Xq26-q27.2 |
| Allelic Variant 1 |
308000.0043; LESCH-NYHAN SYNDROME |
| Identified Mutation |
EX9DEL; In cell line GM3467 from a patient with LNS, Yang et al. (1984) and Gibbs et al. (1990) demonstrated deletion of exon 9. No mRNA was demonstrable. |
| Remarks |
Fibro resistant to azaguanine and thioguanine; cannot utilize exogenous hypoxanthine; HPRT deficient; partial gene deletion beginning with the region coding for exons 7, 8 and 9 in the HPRT1 gene and extending 3' to the last exon; no detect stable HPRT mRNA |
| Jinnah HA, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP, The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res463(3):309-26 2000 |
| PubMed ID: 11018746 |
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| Drinkwater NR, Klinedinst DK, Chemically induced mutagenesis in a shuttle vector with a low- background mutant frequency. Proc Natl Acad Sci U S A83:3402-6 1986 |
| PubMed ID: 3010297 |
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| Yang TP, Patel PI, Chinault AC, Stout JT, Jackson LG, Hildebrand BM, Caskey CT, Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients. Nature310:412-4 1984 |
| PubMed ID: 6087154 |
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| Jacobs L, Bean CL, Marx JA, Optimal phenotypic expression times for HPRT mutants induced in foreskin-, skin-, and lung-derived human diploid fibroblasts. Environ Mutagen5:717-31 1983 |
| PubMed ID: 6617601 |
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| Jacobs L, Demars R, Quantification of chemical mutagenesis in diploid human fibroblasts: induction of azaguanine-resistant mutants by N-methyl-N'-nitro-N- nitrosoguanidine. Mutat Res53:29-53 1978 |
| PubMed ID: 625304 |
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