ID   WR064
AC   CVCL_W073
SY   WR64
DR   Wikidata; Q54994404
RX   PubMed=3343350;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:626; APRT; Simple; p.Met136Thr (c.407T>C); ClinVar=VCV000018296; Zygosity=Heterozygous; Note=APRT*J allele (PubMed=3343350).
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)
CA   Transformed cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 13
//
RX   PubMed=3343350; DOI=10.1172/JCI113408; PMCID=PMC442550;
RA   Hidaka Y., Tarle S.A., Fujimori S., Kamatani N., Kelley W.N.,
RA   Palella T.D.;
RT   "Human adenine phosphoribosyltransferase deficiency. Demonstration of
RT   a single mutant allele common to the Japanese.";
RL   J. Clin. Invest. 81:945-950(1988).
//