Article
Human pluripotent stem cell line (HDZi001-A) derived from a patient carrying the ARVC-5 associated mutation TMEM43-p.S358L.
Stem cell research - 1 Oct 2020
Ratnavadivel Sandra, Szymanski de Toledo Marcelo, Rasmussen Torsten Bloch, Šarić Tomo, Gummert Jan, Zenke Martin, Milting Hendrik
Abstract excerpt
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...
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