ID   HPS0164
AC   CVCL_T929
SY   Riken51
DR   RCB; HPS0164
DR   SKIP; SKIP000245
DR   Wikidata; Q54890335
RX   PubMed=28439558;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:2928; DMD; Unexplicit; Ex48-50del; Zygosity=Hemizygous (PubMed=28439558).
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   10-19Y
CA   Induced pluripotent stem cell
DT   Created: 03-02-14; Last updated: 19-12-24; Version: 11
//
RX   PubMed=28439558; DOI=10.1126/sciadv.1602814; PMCID=PMC5389745;
RA   Zhang Y., Long C.-Z., Li H., McAnally J.R., Baskin K.K., Shelton J.M.,
RA   Bassel-Duby R., Olson E.N.;
RT   "CRISPR-Cpf1 correction of muscular dystrophy mutations in human
RT   cardiomyocytes and mice.";
RL   Sci. Adv. 3:e1602814.1-e1602814.10(2017).
//