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Cellosaurus A0031 iPS#64 (CVCL_IN39)

[Text version]
Cell line name A0031 iPS#64
Synonyms A0031 #64; A0031-derived iPSC clone 64
Accession CVCL_IN39
Resource Identification Initiative To cite this cell line use: A0031 iPS#64 (RRID:CVCL_IN39)
Comments Population: Japanese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:12791; WRN; Simple; p.Arg369Ter (c.1105C>T) (c.1336C>T); ClinVar=VCV000005449; Zygosity=Heterozygous (PubMed=25390333).
  • Mutation; HGNC; HGNC:12791; WRN; Simple; p.Lys1046fs*14 (c.3139-1G>C) (IVS25-1G>C); ClinVar=VCV000005447; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=25390333).
Disease Werner syndrome (NCIt: C3447)
Werner syndrome (ORDO: Orphanet_902)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_T338 (A0031)
Sex of cell Male
Age at sampling 37Y
Category Induced pluripotent stem cell
Publications

PubMed=25390333; DOI=10.1371/journal.pone.0112900; PMCID=PMC4229309
Shimamoto A., Kagawa H., Zensho K., Sera Y., Kazuki Y., Osaki M., Oshimura M., Ishigaki Y., Hamasaki K., Kodama Y., Yuasa S., Fukuda K., Hirashima K., Seimiya H., Koyama H., Shimizu T., Takemoto M., Yokote K., Goto M., Tahara H.
Reprogramming suppresses premature senescence phenotypes of Werner syndrome cells and maintains chromosomal stability over long-term culture.
PLoS ONE 9:E112900-E112900(2014)

Cross-references
Encyclopedic resources Wikidata; Q54606200
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number13