ID   CiRA00111
AC   CVCL_VM71
SY   DMD-iPSC #1; DMD-iPSC clone #1; HPS0383
DR   RCB; HPS0383
DR   Wikidata; Q93453759
RX   PubMed=25434822;
CC   From: Center for iPS Cell Research and Application, Kyoto University; Kyoto; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 2928; DMD; Unexplicit; Ex44del; Zygosity=Hemizygous (PubMed=25434822).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C75482; Duchenne muscular dystrophy
DI   ORDO; Orphanet_98896; Duchenne muscular dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1-9Y
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 29-06-23; Version: 8
//
RX   PubMed=25434822; DOI=10.1016/j.stemcr.2014.10.013; PMCID=PMC4297888;
RA   Li H.-M.L.-S., Fujimoto N., Sasakawa N., Shirai S., Ohkame T.,
RA   Sakuma T., Tanaka M., Amano N., Watanabe A., Sakurai H., Yamamoto T.,
RA   Yamanaka S., Hotta A.;
RT   "Precise correction of the dystrophin gene in Duchenne muscular
RT   dystrophy patient induced pluripotent stem cells by TALEN and
RT   CRISPR-Cas9.";
RL   Stem Cell Reports 4:143-154(2015).
//