%0 Journal Article
%T Generation of an induced pluripotent stem cell line from a patient with arrhythmogenic right ventricular cardiomyopathy harboring a TMEM43 splice-site variant.
%A Lee SH
%A Lim G
%A Kim H
%A Suh D
%A Choi HK
%A Kim HP
%A Yoon HG
%A Park SW
%A Kang SM
%A Kwon C
%A Oh J
%A Lee SH
%J Stem Cell Res
%V 78
%N 0
%D 2024 Aug 25
%M 38824800
%F 1.587
%R 10.1016/j.scr.2024.103453
%X 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.