Cellosaurus cell line WR005 (CVCL

Cross-references
Cell line name	WR005
Synonyms	WR5
Accession	CVCL_W062
Resource Identification Initiative	To cite this cell line use: WR005 (RRID:CVCL_W062)
Comments	Population: Japanese. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:626; APRT; Simple; p.Met136Thr (c.407T>C); ClinVar=VCV000018296; Zygosity=Homozygous; Note=APRT*J allele (PubMed=3343350; PubMed=3488062).
Disease	Adenine phosphoribosyltransferase deficiency (NCIt: C121564) Adenine phosphoribosyltransferase deficiency (ORDO: Orphanet_976)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category	Transformed cell line
Publications	PubMed=3488062; DOI=10.1016/0006-291X(86)90324-4 Nobori T., Kamatani N., Mikanagi K., Nishida Y., Nishioka K. Establishment and characterization of B cell lines from individuals with various types of adenine phosphoribosyltransferase deficiencies. Biochem. Biophys. Res. Commun. 137:998-1005(1986) PubMed=3343350; DOI=10.1172/JCI113408; PMCID=PMC442550 Hidaka Y., Tarle S.A., Fujimori S., Kamatani N., Kelley W.N., Palella T.D. Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese. J. Clin. Invest. 81:945-950(1988)
Encyclopedic resources	Wikidata; Q54994391
Entry history
Entry creation	16-Apr-2014
Last entry update	19-Dec-2024
Version number	12