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Cellosaurus CIRAi006-A-1 (CVCL_ZA44)

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Cell line name CIRAi006-A-1
Synonyms IsC41-F2KU2#17; IsC-F2KU2; CIRAi006-B
Accession CVCL_ZA44
Resource Identification Initiative To cite this cell line use: CIRAi006-A-1 (RRID:CVCL_ZA44)
Comments From: Center for iPS Cell Research and Application, Kyoto University; Kyoto; Japan.
Population: Japanese.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:29090; SMCHD1; Simple_corrected; p.Lys607Ter (c.1819A>T); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=32711388).
  • Mutation; HGNC; HGNC:29090; SMCHD1; Simple_edited; p.Gly612Gly (c.1835A>G); Zygosity=Heterozygous; Note=By CRISPR/Cas9. Silent mutation (PubMed=32711388).
Disease Facioscapulohumeral muscular dystrophy 2 (NCIt: C172705)
Facioscapulohumeral dystrophy (ORDO: Orphanet_269)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_ZA43 (CIRAi006-A)
Sex of cell Female
Age at sampling 55Y
Category Induced pluripotent stem cell
Publications

PubMed=32711388; DOI=10.1016/j.scr.2020.101884
Mitsuru Sasaki-Honda, Akihiro Kagita, Tatsuya Jonouchi, Toshiyuki Araki, Akitsu Hotta, Hidetoshi Sakurai;
Generation of a transgene-free iPSC line and genetically modified line from a facioscapulohumeral muscular dystrophy type 2 (FSHD2) patient with SMCHD1 p.Lys607Ter mutation.
Stem Cell Res. 47:101884-101884(2020)

Cross-references
Cell line databases/resources hPSCreg; CIRAi006-A-1
Biological sample resources BioSamples; SAMEA7001540
Encyclopedic resources Wikidata; Q98125630
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number8