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

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 iPS...

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Bibliographic Details
Published in:Stem cell research 2020-10, Vol.48, p.101957-101957, Article 101957
Main Authors: Ratnavadivel, Sandra, Szymanski de Toledo, Marcelo, Rasmussen, Torsten Bloch, Šarić, Tomo, Gummert, Jan, Zenke, Martin, Milting, Hendrik
Format: Article
Language:English
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Summary: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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2020.101957