Cellosaurus logo
expasy logo

Cellosaurus WR077 (CVCL_W075)

[Text][XML][JSON]
Cell line name WR077
Synonyms WR77
Accession CVCL_W075
Resource Identification Initiative To cite this cell line use: WR077 (RRID:CVCL_W075)
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).
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=3343350; DOI=10.1172/JCI113408; PMCID=PMC442550
Yuji Hidaka, Susan A. Tarle, Shin Fujimori, Naoyuki Kamatani, William Nimmons Kelley, Thomas D. Palella;
Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese.
J. Clin. Invest. 81:945-950(1988)

PubMed=2502918; PMCID=PMC1683345
Naoyuki Kamatani, Shoko Kuroshima, Chihiro Terai, Yuji Hidaka, Thomas D. Palella, Kusuki Nishioka;
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; Q54994406
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number12