Generation of a human iPSC line (HIMRi001-A) from a patient with filaminopathy

  • Here we introduce the human induced pluripotent stem cell (hiPSC) line HIMRi001-A generated from cultured dermal fibroblasts of a 60-year-old male patient with a myofibrillar myopathy, carrying a heterozygous c.4984C > T [p.Q1662X] mutation in the \(\textit {filamin C}\) (\(\it FLNC\))-gene, via lentiviral expression of OCT4, SOX2, KLF4 and c-MYC. HIMRi001-A displays typical embryonic stem cell-like morphology, carries the c.4984C > T \(\it FLNC\) gene mutation, expressed several pluripotent stem cell makers, retained normal karyotype (46, XY) and holds the potential to differentiate in all three germ layers. We postulate that HIMRi001-A can be used for the elucidation of \(\it FLNC\)-associated pathomechanisms and for developing new therapeutic options.

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Author:Nassam M. DayaGND, Lampros MavrommatisGND, Heidi ZhugeGND, Mohammad J. AthamnehGND, Andreas RoosORCiDGND, Dieter GläserGND, Kristina DöringORCiDGND, Holm ZähresORCiDGND, Matthias VorgerdORCiDGND, Anne-Katrin GüttschesORCiDGND
Parent Title (English):Stem cell research
Place of publication:Amsterdam
Document Type:Article
Date of Publication (online):2024/03/13
Date of first Publication:2023/09/21
Publishing Institution:Ruhr-Universität Bochum, Universitätsbibliothek
Tag:Open Access Fonds
Issue:Article 103210
First Page:103210-1
Last Page:103210-5
Article Processing Charge funded by the Deutsche Forschungsgemeinschaft (DFG) and the Open Access Publication Fund of Ruhr-Universität Bochum.
Institutes/Facilities:Heimer-Institut für Muskelforschung am Bergmannsheil
Dewey Decimal Classification:Technik, Medizin, angewandte Wissenschaften / Medizin, Gesundheit
open_access (DINI-Set):open_access
Licence (English):License LogoCreative Commons - CC BY 4.0 - Attribution 4.0 International