Generation of an induced pluripotent stem cell line from a patient with arrhythmogenic right ventricular cardiomyopathy harboring a TMEM43 splice-site variant.
Stem Cell Res
; 78: 103453, 2024 Aug.
Article
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| MEDLINE
| ID: mdl-38824800
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.
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Texto completo:
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Bases de datos:
MEDLINE
Asunto principal:
Displasia Ventricular Derecha Arritmogénica
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Células Madre Pluripotentes Inducidas
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Proteínas de la Membrana
Límite:
Adult
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Humans
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Male
Idioma:
En
Revista:
Stem Cell Res
Año:
2024
Tipo del documento:
Article