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; 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: 19-12-24; Version: 3
//
RX   PubMed=37643496; DOI=10.1016/j.scr.2023.103187;
RA   Hajduchova, Dominika
RA   Suroviakova, Stanislava
RA   Mersakova, Sandra
RA   Brany, Dusan
RA   Zahumenska, Romana
RA   Rehak, Martin
RA   Skovierova, Henrieta
RA   Novakova, Slavomira
RA   Nosal, Vladimir
RA   Marcinek, Juraj
RA   Kalman, Michal
RA   Pec, Martin Jozef
RA   Brozmanova, Mariana
RA   Melegova, Jana
RA   Juhas, Stefan
RA   Juhasova, Jana
RA   Studenovska, Hana
RA   Mitruskova, Barbora
RA   Pokusa, Michal
RA   Samec, Marek
RA   Samos, Matej
RA   Nicodemou, Andreas
RA   Danisovic, Lubos
RA   Dankova, Zuzana
RA   Kurca, Egon
RA   Lexova Kolejakova, Katarina
RA   Chandoga, Jan
RA   Plank, Lukas
RA   Halasova, Erika
RA   Pecova, Renata
RA   Strnadel, Jan
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).
//