NA02290
DNA from Fibroblast
Description:
LESCH-NYHAN SYNDROME; LNS
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Fetal
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
4 |
| |
| hypoxanthine phosphoribosyltransferase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.4.2.8 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| 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 |
| |
| 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 |
| |
| 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 |
| |
| 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 |
|
|