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Cellosaurus CIRAi005-A-1 (CVCL_ZA42)

[Text version]
Cell line name CIRAi005-A-1
Synonyms IsC2-F2KU1#4; IsC-F2KU1; CIRAi005-B
Accession CVCL_ZA42
Resource Identification Initiative To cite this cell line use: CIRAi005-A-1 (RRID:CVCL_ZA42)
Comments From: Center for iPS Cell Research and Application, Kyoto University; Kyoto; Japan.
Population: Japanese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 29090; SMCHD1; Simple_corrected; p.Val1373_Lys1377del (c.4118_4132del); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (hPSCreg=CIRAi005-A-1).
Disease Facioscapulohumeral muscular dystrophy 2 (NCIt: C172705)
Facioscapulohumeral dystrophy (ORDO: Orphanet_269)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_ZA41 (CIRAi005-A)
Sex of cell Female
Age at sampling 55Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) EBiSC; CIRAi005-A-1
ECACC; 66770001 - Discontinued
Cell line databases/resources hPSCreg; CIRAi005-A-1
Biological sample resources BioSamples; SAMEA7001537
Encyclopedic resources Wikidata; Q98125627
Entry history
Entry creation02-Jul-2020
Last entry update30-Jan-2024
Version number6