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Cellosaurus DMD-iPS (DYS-HAC)6 (CVCL_C986)

[Text version]
Cell line name DMD-iPS (DYS-HAC)6
Accession CVCL_C986
Resource Identification Initiative To cite this cell line use: DMD-iPS (DYS-HAC)6 (RRID:CVCL_C986)
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; 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
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 ISCR; 1819
SKIP; SKIP001470
Encyclopedic resources Wikidata; Q54831281
Entry history
Entry creation22-Oct-2012
Last entry update29-Jun-2023
Version number14