ID   WR002
AC   CVCL_W060
SY   WR2
DR   Wikidata; Q54994388
RX   PubMed=2502918;
RX   PubMed=3343350;
RX   PubMed=3488062;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:626; APRT; Simple; p.Met136Thr (c.407T>C); ClinVar=VCV000018296; Zygosity=Homozygous; Note=APRT*J allele (PubMed=3343350; PubMed=3488062).
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: 12
//
RX   PubMed=2502918; PMCID=PMC1683345;
RA   Kamatani N., Kuroshima S., Terai C., Hidaka Y., Palella T.D.,
RA   Nishioka K.;
RT   "Detection of an amino acid substitution in the mutant enzyme for a
RT   special type of adenine phosphoribosyltransferase (APRT) deficiency by
RT   sequence-specific protein cleavage.";
RL   Am. J. Hum. Genet. 45:325-331(1989).
//
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).
//
RX   PubMed=3488062; DOI=10.1016/0006-291X(86)90324-4;
RA   Nobori T., Kamatani N., Mikanagi K., Nishida Y., Nishioka K.;
RT   "Establishment and characterization of B cell lines from individuals
RT   with various types of adenine phosphoribosyltransferase
RT   deficiencies.";
RL   Biochem. Biophys. Res. Commun. 137:998-1005(1986).
//