ID   HPS0312
AC   CVCL_6C86
DR   RCB; HPS0312
DR   SKIP; SKIP000827
DR   Wikidata; Q54890388
RX   PubMed=28491099;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:2928; DMD; Unexplicit; Ex45-50dup; Zygosity=Hemizygous (PubMed=28491099).
CC   Derived from site: In situ; Skeletal muscle; UBERON=UBERON_0001134.
CC   Cell type: Fibroblast of skeletal muscle; CL=CL_0011027.
DI   NCIt; C75482; Duchenne muscular dystrophy
DI   ORDO; Orphanet_98896; Duchenne muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_VM57 ! HPS0313
OI   CVCL_VM58 ! HPS0314
OI   CVCL_UP82 ! HPS0315
OI   CVCL_UP83 ! HPS0316
SX   Male
AG   1Y2M
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 11
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RX   PubMed=28491099; DOI=10.1155/2017/7906843; PMCID=PMC5405591;
RA   Miyagoe-Suzuki Y., Nishiyama T., Nakamura M., Narita A., Takemura F.,
RA   Masuda S., Minami N., Murayama K., Komaki H., Goto Y.-i., Takeda S.-i.;
RT   "Induction of pluripotent stem cells from a manifesting carrier of
RT   Duchenne muscular dystrophy and characterization of their
RT   X-inactivation status.";
RL   Stem Cells Int. 2017:7906843.1-7906843.9(2017).
//