Human pluripotent stem cell line (HDZi001-A) derived from a patient carrying the ARVC-5 associated mutation TMEM43-p.S358L.

Autor:	Ratnavadivel S; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, D-32545 Bad Oeynhausen, Georgstrasse 11, Germany., Szymanski de Toledo M; Institute for Biomedical Engineering - Cell Biology, RWTH Aachen University Medical School, D-52074 Aachen, Pauwelstrasse 30, Germany; Helmholtz Institute for Biomedical Engineering, RWTH Aachen University, D-52074 Aachen, Pauwelstrasse 20, Germany., Rasmussen TB; Department of Cardiology, Aarhus University Hospital, Brendstrupgaardsvej 100, Aarhus, Denmark., Šarić T; Center for Physiology and Pathophysiology, Institute for Neurophysiology Medical Faculty, University of Cologne, D-50931, Robert-Koch-Strasse 39, Germany., Gummert J; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, D-32545 Bad Oeynhausen, Georgstrasse 11, Germany., Zenke M; Institute for Biomedical Engineering - Cell Biology, RWTH Aachen University Medical School, D-52074 Aachen, Pauwelstrasse 30, Germany; Helmholtz Institute for Biomedical Engineering, RWTH Aachen University, D-52074 Aachen, Pauwelstrasse 20, Germany., Milting H; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, D-32545 Bad Oeynhausen, Georgstrasse 11, Germany. Electronic address: hmilting@hdz-nrw.de.
Jazyk:	angličtina
Zdroj:	Stem cell research [Stem Cell Res] 2020 Oct; Vol. 48, pp. 101957. Date of Electronic Publication: 2020 Aug 19.
DOI:	10.1016/j.scr.2020.101957
Abstrakt:	Arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC-5) is a dominantly inherited cardiomyopathy caused by the mutation TMEM43-p.S358L. An induced pluripotent stem cell (iPSC) line (HDZi001-A) from an adult male mutation carrier was generated, using the CytoTune Sendai Kit. The resulting iPSCs carried the mutation TMEM43-p.S358L, had a normal morphology, a stable karyotype and were positive for the expression of pluripotency markers. This iPSC line can be differentiated into the three germ layers and might be a useful model for the characterization of ARVC-5 associated pathomechanism. 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 © 2020 The Authors. Published by Elsevier B.V. All rights reserved.)
Databáze:	MEDLINE
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