ID   CCMi003-A
AC   CVCL_XI81
SY   DMD3 C2; DMD3
DR   hPSCreg; CCMi003-A
DR   Wikidata; Q93445530
RX   PubMed=31465894;
CC   From: Centro Cardiologico Monzino; Milan; Italy.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2928; DMD; Unexplicit; Ex51-53del; Zygosity=Hemizygous (PubMed=31465894).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
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   10Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=31465894; DOI=10.1016/j.scr.2019.101544;
RA   Rovina D., Castiglioni E., Farini A., Bellichi M., Gervasini C.,
RA   Paganini S., Di Segni M., Santoro R., Torrente Y., Pompilio G.,
RA   Gowran A.;
RT   "Establishment of a Duchenne muscular dystrophy patient-derived
RT   induced pluripotent stem cell line carrying a deletion of exons 51-53
RT   of the dystrophin gene (CCMi003-A).";
RL   Stem Cell Res. 40:101544-101544(2019).
//