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 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. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Balducci V, Scardigli F, Harakalova M, Peter van Tintelen J, Doevendans PA, Costa KD, Turnbull IC, P G Sluijter J, Stillitano F
Journal Stem cell research
Publication Date 2023 Oct;72:103208
PubMed 37748331
DOI 10.1016/j.scr.2023.103208

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