Generation of two human iPSC lines (HIMRi002-A and HIMRi003-A) derived from Caveolinopathy patients with rippling muscle disease

  • Here we introduce the human induced pluripotent stem cell lines (hiPSCs), HIMRi002-A and HIMRi003-A, generated from cultured dermal fibroblasts of 61-year-old (HIMRi002-A) and 38-year-old (HIMRi003-A) female patients, carrying a known heterozygous pathogenic variant (\(\it p.A46T\)) in the \(\textit {Caveolin 3}\) (\(\it CAV3\)) gene, via lentiviral expression of OCT4, SOX2, KLF4 and c-MYC. HIMRi002-A and HIMRi003-A display typical embryonic stem cell-like morphology, carry the \(\it p.A46T\) \(\it CAV3\) gene mutation, express several pluripotent stem cell markers, retain normal karyotype (46, XX) and can differentiate in all three germ layers. We postulate that the HIMRi002-A and HIMRi003-A iPSC lines can be used for the characterization of \(\it CAV3\)-associated pathomechanisms and for developing new therapeutic options.

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Author:Alexander BöingGND, Lampros MavrommatisGND, Nassam M. DayaGND, Heidi ZhugeGND, Leon VolkeORCiDGND, A Kocabas, Moritz KneifelGND, Mohammad J. AthamnehGND, Karsten KrauseGND, Nicolina Nathalie SüdkampGND, Kristina DöringORCiDGND, Carsten TheißORCiDGND, Andreas RoosORCiDGND, Holm ZaehresORCiDGND, Anne-Katrin GüttschesORCiDGND, Matthias VorgerdORCiDGND
Parent Title (English):Stem cell research
Publisher:Elsevier B.V.
Place of publication:Amsterdam
Document Type:Article
Date of Publication (online):2024/03/21
Date of first Publication:2024/10/04
Publishing Institution:Ruhr-Universität Bochum, Universitätsbibliothek
Tag:Open Access Fonds
Issue:Artikel 103220
First Page:103220-1
Last Page:103220-4
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