Key result
Novel patient-derived iPSC line models TMEM43-p.S358L pathomechanisms in ARVC-5.
Why the study?
Arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC-5) caused by TMEM43-p.S358L mutation requires models to characterize its pathomechanism.
Offers a novel iPSC model for ARVC-5 research; leaves open pathomechanism validation and clinical translation.
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.
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Ratnavadivel et al. (2020) studied Arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC-5) (n=1). Generation of induced pluripotent stem cell (iPSC) line (HDZi001-A) was evaluated on Successful generation of iPSC line with normal morphology, stable karyotype, and pluripotency. An induced pluripotent stem cell line (HDZi001-A) carrying the TMEM43-p.S358L mutation was successfully generated from an adult male to model ARVC-5 pathomechanisms.
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