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Cellosaurus DMD-iPS2 [Human iPSC Tottori] (CVCL_C993)

[Text version]
Cell line name DMD-iPS2 [Human iPSC Tottori]
Accession CVCL_C993
Resource Identification Initiative To cite this cell line use: DMD-iPS2 [Human iPSC Tottori] (RRID:CVCL_C993)
Comments From: Tottori University; Tottori; Japan.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:2928; DMD; Unexplicit; Ex4-43del; Zygosity=Hemizygous (from parent cell line).
Disease Duchenne muscular dystrophy (NCIt: C75482)
Duchenne muscular dystrophy (ORDO: Orphanet_98896)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_L752 (GM05169)
Sex of cell Male
Age at sampling 9Y
Category Induced pluripotent stem cell
Publications

PubMed=19997091; DOI=10.1038/mt.2009.274; PMCID=PMC2839293
Yasuhiro Kazuki, Masaharu Hiratsuka, Masato Takiguchi, Mitsuhiko Osaki, Naoyo Kajitani, Hidetoshi Hoshiya, Kei Hiramatsu, Toko Yoshino, Kanako Kazuki, Chie Ishihara, Shoko Takehara ...Show all 16 authors... , Katsumi Higaki, Masato Nakagawa, Kazutoshi Takahashi, Shinya Yamanaka, Mitsuo Oshimura; Show fewer authors
Complete genetic correction of iPS cells from Duchenne muscular dystrophy.
Mol. Ther. 18:386-393(2010)

Cross-references
Cell line databases/resources SKIP; SKIP001475
Encyclopedic resources Wikidata; Q54831288
Entry history
Entry creation22-Oct-2012
Last entry update19-Dec-2024
Version number16