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Cellosaurus DMD-iPS (DYS-HAC)7 (CVCL_C987)

[Text version]
Cell line name DMD-iPS (DYS-HAC)7
Accession CVCL_C987
Resource Identification Initiative To cite this cell line use: DMD-iPS (DYS-HAC)7 (RRID:CVCL_C987)
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
Kazuki Y., Hiratsuka M., Takiguchi M., Osaki M., Kajitani N., Hoshiya H., Hiramatsu K., Yoshino T., Kazuki K., Ishihara C., Takehara S., Higaki K., Nakagawa M., Takahashi K., Yamanaka S., Oshimura M.
Complete genetic correction of iPS cells from Duchenne muscular dystrophy.
Mol. Ther. 18:386-393(2010)

Cross-references
Cell line databases/resources SKIP; SKIP001471
Encyclopedic resources Wikidata; Q54831282
Entry history
Entry creation22-Oct-2012
Last entry update19-Dec-2024
Version number16