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Generation of an induced pluripotent stem cell line from a patient with arrhythmogenic right ventricular cardiomyopathy harboring a TMEM43 splice-site variant
- Source :
- Stem Cell Research, Vol 78, Iss , Pp 103453- (2024)
- Publication Year :
- 2024
- Publisher :
- Elsevier, 2024.
-
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.
Details
- Language :
- English
- ISSN :
- 18735061
- Volume :
- 78
- Issue :
- 103453-
- Database :
- Directory of Open Access Journals
- Journal :
- Stem Cell Research
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.34be0af1e03449ec9c8e04a83a69f3dc
- Document Type :
- article
- Full Text :
- https://doi.org/10.1016/j.scr.2024.103453