{Reference Type}: Journal Article
{Title}: Generation of an induced pluripotent stem cell line from a patient with arrhythmogenic right ventricular cardiomyopathy harboring a TMEM43 splice-site variant.
{Author}: Lee SH;Lim G;Kim H;Suh D;Choi HK;Kim HP;Yoon HG;Park SW;Kang SM;Kwon C;Oh J;Lee SH;
{Journal}: Stem Cell Res
{Volume}: 78
{Issue}: 0
{Year}: 2024 Aug 25
{Factor}: 1.587
{DOI}: 10.1016/j.scr.2024.103453
{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.