NA02290
DNA from Fibroblast
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 |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Fetal
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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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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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 |
4 |
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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 |
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| Remarks |
Fetal skin fibroblast culture; see also GM02292C Lymphoid & GM02338 Amniotic; same patient as GM02291; HPRT deficient; positive family history |
| Bunn CL, Baron JI, Mitchell D, Inherent resistance of HeLa cell derivatives to paromomycin. In Vitro Cell Dev Biol22:381-6 1986 |
| PubMed ID: 3015861 |
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| Stambrook PJ, Dush MK, Trill JJ, Tischfield JA, Cloning of a functional human adenine phosphoribosyltransferase (APRT) gene: identification of a restriction fragment length polymorphism and preliminary analysis of DNAs from APRT-deficient families and cell mutants. Somat Cell Mol Genet10:359-67 1984 |
| PubMed ID: 6087472 |
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| James L, Veomett GE, Decreased longevity of human diploid cells after incorporation of latex spheres within their cytoplasm. Exp Cell Res132:468-73 1981 |
| PubMed ID: 7215456 |
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| Tischfield J, Schafer IA, Dickerman LH, Trill J, Mulivor RA, Greene AE, Coriell LL, Lesch-Nyhan syndrome. Repository identification Nos. GM-2290, 2291, 2292, 2338, 3115, 3116, and 3117. Cytogenet Cell Genet24:199-200 1979 |
| PubMed ID: 477417 |
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