Generation and characterization of novel human induced pluripotent stem cell (iPSC) lines originating from five asymptomatic individuals carrying the PLN-R14del pathogenic variant and a non-carrier relative

Generation and characterization of novel human induced pluripotent stem cell (iPSC) lines originating from five asymptomatic individuals carrying the PLN-R14del pathogenic variant and a non-carrier relative

The rare genetic alteration PLN-c.(40_42delAGA), leading to the deletion of arginine 14 (p.R14del) in phospholamban, is associated with dilated and arrhythmogenic cardiomyopathies occurring in early-adulthood. However, some carriers remain asymptomatic with normal lifespans. Here, we report human in...

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Bibliographic Details
Main Authors: Valentina Balducci, Francesco Scardigli, Magdalena Harakalova, J. Peter. van Tintelen, Pieter A. Doevendans, Kevin D. Costa, Irene C. Turnbull, Joost P. G. Sluijter, Francesca Stillitano
Format: Article
Language:English
Published: Elsevier 2023-10-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506123001940

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http://www.sciencedirect.com/science/article/pii/S1873506123001940

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