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
Published in:Stem cell research 2023-10, Vol.72, p.103208-103208, Article 103208
Main Authors: Balducci, Valentina, Scardigli, Francesco, Harakalova, Magdalena, Peter. van Tintelen, J., Doevendans, Pieter A., Costa, Kevin D., Turnbull, Irene C., P. G. Sluijter, Joost, Stillitano, Francesca
Format: Article
Language:English
Subjects:
Adult
Cardiomyopathies - genetics
Humans
Induced Pluripotent Stem Cells
Leukocytes, Mononuclear
Mutation
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Summary: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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2023.103208