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

Authors :
Ratnavadivel S
Szymanski de Toledo M
Rasmussen TB
Šarić T
Gummert J
Zenke M
Milting H
Source :
Stem cell research [Stem Cell Res] 2020 Oct; Vol. 48, pp. 101957. Date of Electronic Publication: 2020 Aug 19.
Publication Year :
2020

Abstract

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.<br />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.<br /> (Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.)

Details

Language :
English
ISSN :
1876-7753
Volume :
48
Database :
MEDLINE
Journal :
Stem cell research
Publication Type :
Academic Journal
Accession number :
32858485
Full Text :
https://doi.org/10.1016/j.scr.2020.101957