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Cellosaurus WS12001 (CVCL_A7FN)

[Text version]
Cell line name WS12001
Accession CVCL_A7FN
Resource Identification Initiative To cite this cell line use: WS12001 (RRID:CVCL_A7FN)
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:12791; WRN; Simple; p.Tyr463Ter (c.1389T>A) (c.1620T>A); Zygosity=Homozygous (PubMed=10543396).
Disease Werner syndrome (NCIt: C3447)
Werner syndrome (ORDO: Orphanet_902)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 52Y
Category Transformed cell line
Publications

PubMed=10543396; DOI=10.1007/s004399900151
Goto M., Yamabe Y., Shiratori M., Okada M., Kawabe T., Matsumoto T., Sugimoto M., Furuichi Y.
Immunological diagnosis of Werner syndrome by down-regulated and truncated gene products.
Hum. Genet. 105:301-307(1999)

Cross-references
Encyclopedic resources Wikidata; Q107117510
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number5