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

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

Research output: Contribution to journalArticlepeer-review

Abstract

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 induced pluripotent stem cell (iPSC) lines generated from peripheral blood mononuclear cells (PBMCs) of five PLN-R14del carriers, who were asymptomatic at the time of blood collection, and one non-carrier family member. Each line exhibited typical iPSC morphology, pluripotency markers, and tri-lineage differentiation. These cell lines provide a valuable model to investigate the mechanisms underlying the onset, progression, and patient-specific resistance to PLN-R14del-induced cardiomyopathy.

Original languageEnglish
Article number103208
JournalStem Cell Research
Volume72
DOIs
StatePublished - Oct 2023

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