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Cellosaurus ORIONi003-A (CVCL_C9ED)

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Cell line name ORIONi003-A
Synonyms iDMD-1
Accession CVCL_C9ED
Resource Identification Initiative To cite this cell line use: ORIONi003-A (RRID:CVCL_C9ED)
Comments From: Biomedical Center Martin, Jessenius Faculty of Medicine, Comenius University; Martin; Slovakia.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2928; DMD; Simple; p.Val2305Leufs*9 (c.6913_7309del) (Ex48-50del); Zygosity=Hemizygous (PubMed=37643496).
Disease Duchenne muscular dystrophy (NCIt: C75482)
Duchenne muscular dystrophy (ORDO: Orphanet_98896)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 10Y
Category Induced pluripotent stem cell
Publications

PubMed=37643496; DOI=10.1016/j.scr.2023.103187
Dominika Hajduchova, Stanislava Suroviakova, Sandra Mersakova, Dusan Brany, Romana Zahumenska, Martin Rehak, Henrieta Skovierova, Slavomira Novakova, Vladimir Nosal, Juraj Marcinek, Michal Kalman ...Show all 31 authors... , Martin Jozef Pec, Mariana Brozmanova, Jana Melegova, Stefan Juhas, Jana Juhasova, Hana Studenovska, Barbora Mitruskova, Michal Pokusa, Marek Samec, Matej Samos, Andreas Nicodemou, Lubos Danisovic, Zuzana Dankova, Egon Kurca, Katarina Lexova Kolejakova, Jan Chandoga, Lukas Plank, Erika Halasova, Renata Pecova, Jan Strnadel; Show fewer authors
Modelling Duchenne muscular dystrophy in vitro with newly generated, blood cell-derived induced pluripotent stem cell line ORIONi003-A.
Stem Cell Res. 71:103187-103187(2023)

Cross-references
Cell line databases/resources hPSCreg; ORIONi003-A
Biological sample resources BioSamples; SAMEA112765862
Encyclopedic resources Wikidata; Q123033218
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3