ID   ORIONi003-A
AC   CVCL_C9ED
SY   iDMD-1
DR   BioSamples; SAMEA112765862
DR   hPSCreg; ORIONi003-A
DR   Wikidata; Q123033218
RX   PubMed=37643496;
CC   From: Biomedical Center Martin, Jessenius Faculty of Medicine, Comenius University; Martin; Slovakia.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2928; DMD; Simple; p.Val2305Leufs*9 (c.6913_7309del) (Ex48-50del); Zygosity=Hemizygous (PubMed=37643496).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37643496; DOI=10.1016/j.scr.2023.103187;
RA   Hajduchova D., Suroviakova S., Mersakova S., Brany D., Zahumenska R.,
RA   Rehak M., Skovierova H., Novakova S., Nosal V., Marcinek J.,
RA   Kalman M., Pec M.J., Brozmanova M., Melegova J., Juhas S.,
RA   Juhasova J., Studenovska H., Mitruskova B., Pokusa M., Samec M.,
RA   Samos M., Nicodemou A., Danisovic L., Dankova Z., Kurca E.,
RA   Lexova Kolejakova K., Chandoga J., Plank L., Halasova E., Pecova R.,
RA   Strnadel J.;
RT   "Modelling Duchenne muscular dystrophy in vitro with newly generated,
RT   blood cell-derived induced pluripotent stem cell line ORIONi003-A.";
RL   Stem Cell Res. 71:103187-103187(2023).
//