Generation of an induced pluripotent stem cell line from a patient with arrhythmogenic right ventricular cardiomyopathy harboring a TMEM43 splice-site variant
Summary
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. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | 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 research |
| Publication Date | 2024 Aug;78:103453 |
| PubMed | 38824800 |
| DOI | 10.1016/j.scr.2024.103453 |