ID   GM07291
AC   CVCL_0R04
DR   CLO; CLO_0035945
DR   Coriell; GM07291
DR   Wikidata; Q54842642
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 626; APRT; Simple; p.Leu110Pro (c.329T>C); ClinVar=VCV000018300; Zygosity=Homozygous (Coriell=GM07291).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C121564; Adenine phosphoribosyltransferase deficiency
DI   ORDO; Orphanet_976; Adenine phosphoribosyltransferase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   46Y
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 02-05-24; Version: 14
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//