ID   HPS0317
AC   CVCL_1Q66
DR   RCB; HPS0317
DR   SKIP; SKIP000618
DR   Wikidata; Q54890389
RX   PubMed=28491099;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:2928; DMD; Unexplicit; Ex42-43del; Zygosity=Heterozygous (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_UP84 ! HPS0318
OI   CVCL_VM49 ! HPS0319
OI   CVCL_UP85 ! HPS0320
OI   CVCL_UP86 ! HPS0321
OI   CVCL_1Q67 ! HPS0322
OI   CVCL_VM50 ! HPS0323
OI   CVCL_UP87 ! HPS0324
OI   CVCL_UP88 ! HPS0325
SX   Female
AG   41Y
CA   Induced pluripotent stem cell
DT   Created: 08-07-15; Last updated: 19-12-24; Version: 12
//
RX   PubMed=28491099; DOI=10.1155/2017/7906843; PMCID=PMC5405591;
RA   Miyagoe-Suzuki, Yuko
RA   Nishiyama, Takashi
RA   Nakamura, Miho
RA   Narita, Asako
RA   Takemura, Fusako
RA   Masuda, Satoru
RA   Minami, Narihiro
RA   Murayama, Kumiko
RA   Komaki, Hirofumi
RA   Goto, Yu-ichi
RA   Takeda, Shin-ichi
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).
//