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Cellosaurus WR015 (CVCL_W066)

[Text version]
Cell line name WR015
Synonyms WR15
Accession CVCL_W066
Resource Identification Initiative To cite this cell line use: WR015 (RRID:CVCL_W066)
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.Lys88Profs*23 (c.258_261dupCCGA); ClinVar=VCV000018299; Zygosity=Homozygous; Note=APRT*Q0 allele (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=2502918; PMCID=PMC1683345
Kamatani N., Kuroshima S., Terai C., Hidaka Y., Palella T.D., Nishioka K.
Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage.
Am. J. Hum. Genet. 45:325-331(1989)

Cross-references
Encyclopedic resources Wikidata; Q54994395
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number12