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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 :
Sandra Ratnavadivel
Marcelo Szymanski de Toledo
Torsten Bloch Rasmussen
Tomo Šarić
Jan Gummert
Martin Zenke
Hendrik Milting
Source :
Stem Cell Research, Vol 48, Iss , Pp 101957- (2020)
Publication Year :
2020
Publisher :
Elsevier, 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.

Subjects

Subjects :
Biology (General)
QH301-705.5

Details

Language :
English
ISSN :
18735061
Volume :
48
Issue :
101957-
Database :
Directory of Open Access Journals
Journal :
Stem Cell Research
Publication Type :
Academic Journal
Accession number :
edsdoj.44577e4280204fadb21ba65f88fffbc7
Document Type :
article
Full Text :
https://doi.org/10.1016/j.scr.2020.101957