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

doi:10.1016/j.scr.2023.103208

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^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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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 language	English
Article number	103208
Journal	Stem Cell Research
Volume	72
DOIs	https://doi.org/10.1016/j.scr.2023.103208
Publication status	Published - Oct 2023

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1-s2.0-S1873506123001940-mainFinal published version, 4.09 MBLicence: CC BY

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Balducci, V., Scardigli, F., Harakalova, M., Peter. van Tintelen, J., Doevendans, P. A., Costa, K. D., Turnbull, I. C., P. G. Sluijter, J., & Stillitano, F. (2023). 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. Stem Cell Research, 72, Article 103208. https://doi.org/10.1016/j.scr.2023.103208

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title = "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",

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.",

author = "Valentina Balducci and Francesco Scardigli and Magdalena Harakalova and {Peter. van Tintelen}, J. and Doevendans, {Pieter A.} and Costa, {Kevin D.} and Turnbull, {Irene C.} and {P. G. Sluijter}, Joost and Francesca Stillitano",

note = "Publisher Copyright: {\textcopyright} 2023 The Author(s)",

year = "2023",

month = oct,

doi = "10.1016/j.scr.2023.103208",

language = "English",

volume = "72",

journal = "Stem Cell Research",

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Balducci, V, Scardigli, F, Harakalova, M , Peter. van Tintelen, J , Doevendans, PA, Costa, KD, Turnbull, IC, P. G. Sluijter, J & Stillitano, F 2023, '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', Stem Cell Research, vol. 72, 103208. https://doi.org/10.1016/j.scr.2023.103208

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. / Balducci, Valentina; Scardigli, Francesco; Harakalova, Magdalena et al.
In: Stem Cell Research, Vol. 72, 103208, 10.2023.

Research output: Contribution to journal › Article › Academic › peer-review

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T1 - 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

AU - Balducci, Valentina

AU - Scardigli, Francesco

AU - Harakalova, Magdalena

AU - Peter. van Tintelen, J.

AU - Doevendans, Pieter A.

AU - Costa, Kevin D.

AU - Turnbull, Irene C.

AU - P. G. Sluijter, Joost

AU - Stillitano, Francesca

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AB - 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.

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Balducci V, Scardigli F, Harakalova M , Peter. van Tintelen J , Doevendans PA, Costa KD et al. 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. Stem Cell Research. 2023 Oct;72:103208. doi: 10.1016/j.scr.2023.103208

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

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