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Cellosaurus HPS0318 (CVCL_UP84)

[Text version]
Cell line name HPS0318
Accession CVCL_UP84
Resource Identification Initiative To cite this cell line use: HPS0318 (RRID:CVCL_UP84)
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; Ex42-43del; Zygosity=Heterozygous (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_1Q66 ! HPS0317
CVCL_VM49 ! HPS0319
CVCL_UP85 ! HPS0320
CVCL_UP86 ! HPS0321
CVCL_1Q67 ! HPS0322
CVCL_VM50 ! HPS0323
CVCL_UP87 ! HPS0324
CVCL_UP88 ! HPS0325
Sex of cell Female
Age at sampling 41Y
Category Induced pluripotent stem cell
Publications

PubMed=28491099; DOI=10.1155/2017/7906843; PMCID=PMC5405591
Miyagoe-Suzuki Y., Nishiyama T., Nakamura M., Narita A., Takemura F., Masuda S., Minami N., Murayama K., Komaki H., Goto Y.-i., Takeda S.-i.
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; HPS0318
Encyclopedic resources Wikidata; Q94218729
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number10