ID   WR015
AC   CVCL_W066
SY   WR15
DR   Wikidata; Q54994395
RX   PubMed=2502918;
RX   PubMed=3488062;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:626; APRT; Simple; p.Lys88Profs*23 (c.258_261dupCCGA); ClinVar=VCV000018299; Zygosity=Homozygous; Note=APRT*Q0 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: 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=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).
//