Titin-truncating variants in hiPSC cardiomyocytes induce pathogenic proteinopathy and sarcomere defects with preserved core contractile machinery

Titin-truncating variants in hiPSC cardiomyocytes induce pathogenic proteinopathy and sarcomere defects with preserved core contractile machinery

Summary: Titin-truncating variants (TTNtv) are the single largest genetic cause of dilated cardiomyopathy (DCM). In this study we modeled disease phenotypes of A-band TTNtv-induced DCM in human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) using genome editing and tissue engineeri...

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Bibliographic Details
Main Authors: Guanyi Huang, Anjali Bisaria, Devin L. Wakefield, Tracy M. Yamawaki, Xin Luo, Jingli A. Zhang, Patrick Vigneault, Jinghong Wang, Jeffrey D. Reagan, Oliver Oliverio, Hong Zhou, Chi-Ming Li, Olaia F. Vila, Songli Wang, Fady I. Malik, James J. Hartman, Christopher M. Hale
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:Stem Cell Reports
Subjects:
HIPSC-CM
sarcomere mutation
cardiomyopathy
disease modeling
3D micro-tissues
contractility
Online Access:http://www.sciencedirect.com/science/article/pii/S2213671122005410

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