Generation of two hiPSCs lines of two patients carrying truncating mutations in the dimerization domain of filamin C.

Autor:	Daya NM; Department of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany., Döring K; Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany., Zhuge H; Department of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany., Volke L; Department of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany., Stab V; Department of Endocrinology, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany., Dietz J; Department of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany., Athamneh M; Department of Clinical Science, Faculty of Medicine, Yarmouk University, Irbid, Jordan., Roos A; Department of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany., Zaehres H; Department of Anatomy and Molecular Embryology, Institute of Anatomy, Ruhr-University Bochum, 44801 Bochum, Germany., Güttsches AK; Department of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany., Mavrommatis L; Department of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany., Vorgerd M; Department of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany. Electronic address: matthias.vorgerd@bergmannsheil.de.
Jazyk:	angličtina
Zdroj:	Stem cell research [Stem Cell Res] 2024 Apr; Vol. 76, pp. 103320. Date of Electronic Publication: 2024 Jan 27.
DOI:	10.1016/j.scr.2024.103320
Abstrakt:	Here we introduce the human induced pluripotent stem cell lines (hiPSCs), HIMRi004-A and HIMRi005-A from dermal fibroblasts of a 48-year-old female (HIMRi004-A) carrying missense mutation that translate to the first described filamin C isoform p.W2710X and from a 56-year-old female (HIMRi005-A) carrying a recently described mutation in the same domain p.Y2704X. Both lines are generated via lentiviral expression of OCT4, SOX2, KLF4 and c-MYC. The lines display a typical embryonic stem cell-like morphology, express pluripotency markers, retain a normal karyotype (46, XX) and have the differentiation capacity in all three germ layers. The two lines can be used to elucidate the pathomechanisms of FLNC myofibrillar myopathies and to develop novel therapeutic options. Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (Copyright © 2024. Published by Elsevier B.V.)
Databáze:	MEDLINE
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