Human pluripotent stem cell line (HDZi001-A) derived from a patient carrying the ARVC-5 associated mutation TMEM43-p.S358L
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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Ratnavadivel S, Szymanski de Toledo M, Rasmussen TB, Šarić T, Gummert J, Zenke M, Milting H |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 Oct;48:101957 |
| PubMed | 32858485 |
| DOI | 10.1016/j.scr.2020.101957 |