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Cellosaurus HPS0312 (CVCL_6C86)

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Cell line name HPS0312
Accession CVCL_6C86
Resource Identification Initiative To cite this cell line use: HPS0312 (RRID:CVCL_6C86)
Comments Population: Japanese.
Derived from site: In situ; Skeletal muscle; UBERON=UBERON_0001134.
Cell type: Fibroblast of skeletal muscle; CL=CL_0011027.
Sequence variations
  • Mutation; HGNC; HGNC:2928; DMD; Unexplicit; Ex45-50dup; Zygosity=Hemizygous (PubMed=28491099).
Disease Duchenne muscular dystrophy (NCIt: C75482)
Duchenne muscular dystrophy (ORDO: Orphanet_98896)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_VM57 ! HPS0313
CVCL_VM58 ! HPS0314
CVCL_UP82 ! HPS0315
CVCL_UP83 ! HPS0316
Sex of cell Male
Age at sampling 1Y2M
Category Induced pluripotent stem cell
Publications

PubMed=28491099; DOI=10.1155/2017/7906843; PMCID=PMC5405591
Yuko Miyagoe-Suzuki, Takashi Nishiyama, Miho Nakamura, Asako Narita, Fusako Takemura, Satoru Masuda, Narihiro Minami, Kumiko Murayama, Hirofumi Komaki, Yu-ichi Goto, Shin-ichi Takeda;
Induction of pluripotent stem cells from a manifesting carrier of Duchenne muscular dystrophy and characterization of their X-inactivation status.
Stem Cells Int. 2017:7906843.1-7906843.9(2017)

Cross-references
Cell line collections (Providers) RCB; HPS0312
Cell line databases/resources SKIP; SKIP000827
Encyclopedic resources Wikidata; Q54890388
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number11