Abstract：
Arrhythmogenic cardiomyopathy (ACM) is a cardiomyopathy that is predominantly inherited and characterized by cardiac arrhythmias and structural abnormalities. TMEM43 (transmembrane protein 43) is one of the well-known genetic culprits behind ACM. In this study, we successfully generated an induced pluripotent stem cell (iPSC) line, YCMi010-A, derived from a male patient diagnosed with ACM. Although these iPSCs harbored a heterozygous intronic splice variant, TMEM43 c.443-2A > G, they still displayed normal cellular morphology and were confirmed to express pluripotency markers. YCMi010-A iPSC line is a promising model for investigating the pathomechanisms associated with ACM and exploring potential therapeutic strategies.
摘要：
心律失常性心肌病（ACM）是一种主要遗传的心肌病，其特征是心律失常和结构异常。TMEM43（跨膜蛋白43）是ACM背后众所周知的遗传罪魁祸首之一。在这项研究中,我们成功地产生了诱导多能干细胞（iPSC）系，YCMi010-A,来自一名诊断为ACM的男性患者。尽管这些iPSC具有杂合内含子剪接变体，TMEM43c.443-2A>G，它们仍然显示出正常的细胞形态，并被证实表达多能性标记。YCMi010-AiPSC系是研究与ACM相关的病理机制和探索潜在治疗策略的有前途的模型。
