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.

Metadaten
Author:	Nassam M. Daya GND, Lampros Mavrommatis GND, Heidi Zhuge GND, Mohammad J. Athamneh GND, Andreas Roos ORCiD GND, Dieter Gläser GND, Kristina Döring ORCiD GND, Holm Zähres ORCiD GND, Matthias Vorgerd ORCiD GND, Anne-Katrin Güttsches ORCiD GND
URN:	urn:nbn:de:hbz:294-110539
DOI:	https://doi.org/10.1016/j.scr.2023.103210
Parent Title (English):	Stem cell research
Publisher:	Elsevier
Place of publication:	Amsterdam
Document Type:	Article
Language:	English
Date of Publication (online):	2024/03/13
Date of first Publication:	2023/09/21
Publishing Institution:	Ruhr-Universität Bochum, Universitätsbibliothek
Tag:	Open Access Fonds
Volume:	72
Issue:	Article 103210
First Page:	103210-1
Last Page:	103210-5
Note:	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):	Creative Commons - CC BY 4.0 - Attribution 4.0 International

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