Coriell Institute
Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Nucleotide and Nucleic Acid Metabolism
Cell Type Fibroblast
Transformant Untransformed
Family Member 2
Relation to Proband mother
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Two populations of cells: one showing no significant uptake and the other showing normal uptake of tritiated hypoxanthine by autoradiography; HPRT+ / HPRT
Passage Frozen 6
 
Remark Two populations of cells: one showing no significant uptake and the other showing normal uptake of tritiated hypoxanthine by autoradiography; HPRT+ / HPRT
Newcomb B1, Rhein C1,2, Mileva I1, Ahmad R3, Clarke CJ1, Snider J1, Obeid LM1,4, Hannun YA, Identification of an acid sphingomyelinase ceramide kinase pathway in the regulation of the chemokine CCL5 Journal of Lipid Research59:1219-1229 2018
PubMed ID: 29724781
 
Belair C, Sim S, Kim KY, Tanaka Y, Park IH, and IH, Wolin SL, The RNA exosome nuclease complex regulates human embryonic stem cell differentiation The Journal of cell biology59:1219-1229 2018
PubMed ID: 31308215
 
Bruck T, Yanuka O, Benvenisty N, Human Pluripotent Stem Cells with Distinct X Inactivation Status Show Molecular and Cellular Differences Controlled by the X-Linked ELK-1 Gene Cell Rep.4(2):262-70 2013
PubMed ID: 23871667
 
Boggs BA, Nussbaum RL, Two anonymous X-specific human sequences detecting restriction fragment length polymorphisms in region Xq26----qter. Somat Cell Mol Genet10:607-13 1984
PubMed ID: 6095463
 
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
 
Torrelio BM, Paz MA, Increased phosphoribosylpyrophosphate synthetase activity in fibroblasts of hypoxanthine-guanine phosphoribosyl transferase deficient patients. Biochem Biophys Res Commun87:380-7 1979
PubMed ID: 220971
View pedigree 
Passage Frozen 6
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
Serum 10% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA

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