Alternative splicing dynamics during human cardiac development in vivo and in vitro

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Authors: Beatriz Gomes-Silva, Marta Furtado, Marta Ribeiro, Sandra Martins, Teresa Carvalho, André Ventura-Gomes, Henrike Maatz, Pragati Parakkat, Claudia Crocini, Michael Gotthardt, Rosina Savisaar, Maria Carmo-Fonseca
Cited by: 4
References: 81

Abstract

Cardiomyocytes differentiated in vitro from human induced pluripotent stem cells (iPSC-CMs) are increasingly used in studies of disease mechanisms, drug development, toxicity testing, and regenerative medicine. Alternative splicing (AS) plays a pivotal role in cardiac development. However, the extent to which iPSC-CMs recapitulate native cardiac splicing patterns remains poorly understood. Here, we provide a comprehensive temporal map of AS regulation during human cardiac development. iPSC-derived cardiomyocytes globally recapitulate the transcriptome of prenatal cardiomyocytes, yet their splicing profiles remain heterogeneous, with certain events reflecting early embryonic patterns and others resembling those of later-stage fetal hearts. Moreover, we uncover altered splicing events in iPSC-CMs, including mis-splicing of splicing factors. In conclusion, we present a resource of AS dynamics throughout human cardiac development and a catalog of splicing markers to assess cardiomyocyte maturation in vitro. Our findings provide critical insights into the limitations of iPSC-CM models and their utility in cardiovascular research.

Fields of Study & Subjects

Pluripotent Stem Cells Research Congenital heart defects research RNA Research and Splicing

Publication details

Journal / source
Stem Cell Reports
Publisher
Elsevier BV
Volume
21
Issue
1
Pages
102757–102757
Publication date
1 January 2026
Language
EN