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Cellosaurus CIRAi005-A (CVCL_ZA41)

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Cell line name CIRAi005-A
Synonyms F2KU1#4; F2KU1
Accession CVCL_ZA41
Resource Identification Initiative To cite this cell line use: CIRAi005-A (RRID:CVCL_ZA41)
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; HGNC:29090; SMCHD1; Simple; p.Val1373_Lys1377del (c.4118_4132del); Zygosity=Heterozygous (hPSCreg=CIRAi005-A).
Disease Facioscapulohumeral muscular dystrophy 2 (NCIt: C172705)
Facioscapulohumeral dystrophy (ORDO: Orphanet_269)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_ZA42 (CIRAi005-A-1)
Sex of cell Female
Age at sampling 55Y
Category Induced pluripotent stem cell
Publications

PubMed=30107443; DOI=10.1093/hmg/ddy293; PMCID=PMC6240734
Mitsuru Sasaki-Honda, Tatsuya Jonouchi, Meni Arai, Akitsu Hotta, Satomi Mitsuhashi, Ichizo Nishino, Ryoichi Matsuda, Hidetoshi Sakurai;
A patient-derived iPSC model revealed oxidative stress increases facioscapulohumeral muscular dystrophy-causative DUX4.
Hum. Mol. Genet. 27:4024-4035(2018)

Cross-references
Cell line databases/resources hPSCreg; CIRAi005-A
Biological sample resources BioSamples; SAMEA6983572
Encyclopedic resources Wikidata; Q98125626
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number6