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.

中文翻译：

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人多能干细胞系（HDZi001-A）来自携带ARVC-5相关突变TMEM43-p.S358L的患者。

5型心律失常性右室心肌病（ARVC-5）是由TMEM43- p.S358L突变引起的显性遗传性心肌病。使用CytoTune Sendai试剂盒，从成年男性突变载体产生了诱导性多能干细胞（iPSC）系（HDZi001-A）。产生的iPSC携带突变TMEM43- p.S358L，具有正常形态，稳定的核型，并且多能性标记物的表达是阳性的。该iPSC品系可以分为三个胚层，并且可能是表征ARVC-5相关致病机理的有用模型。