ID   WR036
AC   CVCL_W071
SY   WR36
DR   Wikidata; Q54994402
RX   PubMed=3488062;
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=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: 13
//
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).
//