Generation and characterization of human induced pluripotent stem cell (iPSC) lines from two asymptomatic Greek carriers of the Phospholamban (PLN)-R14del pathogenic variant and a non-carrier relative

Karen R Gaar-Humphreys; Valentina Balducci; Femke Pol; Elizabeth Vafiadaki; Aris Anastasakis; Fotis Kolokathis; Despina Sanoudou; Pieter Doevendans; Joost P G Sluijter; Francesca Stillitano

doi:10.1016/j.scr.2025.103865

Generation and characterization of human induced pluripotent stem cell (iPSC) lines from two asymptomatic Greek carriers of the Phospholamban (PLN)-R14del pathogenic variant and a non-carrier relative

Karen R Gaar-Humphreys
, Valentina Balducci
, Femke Pol
, Elizabeth Vafiadaki
, Aris Anastasakis
, Fotis Kolokathis
, Despina Sanoudou
, Pieter Doevendans
, Joost P G Sluijter
, Francesca Stillitano^*

^*Corresponding author for this work

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

2 Downloads (Pure)

Abstract

Phospholamban (PLN) cardiomyopathy, caused by the deletion of arginine 14 in PLN (PLN-R14del), is associated with both dilated and arrhythmogenic cardiomyopathy, often manifesting early in life. Interestingly, some carriers remain asymptomatic with a normal life span. The mechanisms underlying disease progression remain unclear. We generated human induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells of two asymptomatic Greek PLN-R14del carriers and one non-carrier relative. These iPSC lines exhibit typical morphology and markers of undifferentiated hPSC state, providing an in vitro platform to investigate disease mechanisms and gain insights into the patient-specific onset and progression of PLN-R14del cardiomyopathy.

Original language	English
Article number	103865
Journal	Stem Cell Research
Volume	89
Early online date	30 Oct 2025
DOIs	https://doi.org/10.1016/j.scr.2025.103865
Publication status	Published - Dec 2025

Access to Document

10.1016/j.scr.2025.103865Licence: CC BY

Generation and characterization of human induced pluripotent stem cell (iPSC) lines from two asymptomatic Greek carriers of the Phospholamban (PLN)-R14del pathogenic variant and a non-carrier relativeFinal published version, 8.15 MBLicence: CC BY

Cite this

Gaar-Humphreys, K. R., Balducci, V., Pol, F., Vafiadaki, E., Anastasakis, A., Kolokathis, F., Sanoudou, D., Doevendans, P., Sluijter, J. P. G., & Stillitano, F. (2025). Generation and characterization of human induced pluripotent stem cell (iPSC) lines from two asymptomatic Greek carriers of the Phospholamban (PLN)-R14del pathogenic variant and a non-carrier relative. Stem Cell Research, 89, Article 103865. https://doi.org/10.1016/j.scr.2025.103865

@article{f3550026f9054b3abd15f7fbc0aa2f0c,

title = "Generation and characterization of human induced pluripotent stem cell (iPSC) lines from two asymptomatic Greek carriers of the Phospholamban (PLN)-R14del pathogenic variant and a non-carrier relative",

abstract = "Phospholamban (PLN) cardiomyopathy, caused by the deletion of arginine 14 in PLN (PLN-R14del), is associated with both dilated and arrhythmogenic cardiomyopathy, often manifesting early in life. Interestingly, some carriers remain asymptomatic with a normal life span. The mechanisms underlying disease progression remain unclear. We generated human induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells of two asymptomatic Greek PLN-R14del carriers and one non-carrier relative. These iPSC lines exhibit typical morphology and markers of undifferentiated hPSC state, providing an in vitro platform to investigate disease mechanisms and gain insights into the patient-specific onset and progression of PLN-R14del cardiomyopathy.",

author = "Gaar-Humphreys, \{Karen R\} and Valentina Balducci and Femke Pol and Elizabeth Vafiadaki and Aris Anastasakis and Fotis Kolokathis and Despina Sanoudou and Pieter Doevendans and Sluijter, \{Joost P G\} and Francesca Stillitano",

note = "Publisher Copyright: {\textcopyright} 2025 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY license. http://creativecommons.org/licenses/by/4.0/",

year = "2025",

month = dec,

doi = "10.1016/j.scr.2025.103865",

language = "English",

volume = "89",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Elsevier",

}

Gaar-Humphreys, KR, Balducci, V, Pol, F, Vafiadaki, E, Anastasakis, A, Kolokathis, F, Sanoudou, D, Doevendans, P , Sluijter, JPG & Stillitano, F 2025, 'Generation and characterization of human induced pluripotent stem cell (iPSC) lines from two asymptomatic Greek carriers of the Phospholamban (PLN)-R14del pathogenic variant and a non-carrier relative', Stem Cell Research, vol. 89, 103865. https://doi.org/10.1016/j.scr.2025.103865

Generation and characterization of human induced pluripotent stem cell (iPSC) lines from two asymptomatic Greek carriers of the Phospholamban (PLN)-R14del pathogenic variant and a non-carrier relative. / Gaar-Humphreys, Karen R; Balducci, Valentina; Pol, Femke et al.
In: Stem Cell Research, Vol. 89, 103865, 12.2025.

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

TY - JOUR

T1 - Generation and characterization of human induced pluripotent stem cell (iPSC) lines from two asymptomatic Greek carriers of the Phospholamban (PLN)-R14del pathogenic variant and a non-carrier relative

AU - Gaar-Humphreys, Karen R

AU - Balducci, Valentina

AU - Pol, Femke

AU - Vafiadaki, Elizabeth

AU - Anastasakis, Aris

AU - Kolokathis, Fotis

AU - Sanoudou, Despina

AU - Doevendans, Pieter

AU - Sluijter, Joost P G

AU - Stillitano, Francesca

PY - 2025/12

Y1 - 2025/12

N2 - Phospholamban (PLN) cardiomyopathy, caused by the deletion of arginine 14 in PLN (PLN-R14del), is associated with both dilated and arrhythmogenic cardiomyopathy, often manifesting early in life. Interestingly, some carriers remain asymptomatic with a normal life span. The mechanisms underlying disease progression remain unclear. We generated human induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells of two asymptomatic Greek PLN-R14del carriers and one non-carrier relative. These iPSC lines exhibit typical morphology and markers of undifferentiated hPSC state, providing an in vitro platform to investigate disease mechanisms and gain insights into the patient-specific onset and progression of PLN-R14del cardiomyopathy.

AB - Phospholamban (PLN) cardiomyopathy, caused by the deletion of arginine 14 in PLN (PLN-R14del), is associated with both dilated and arrhythmogenic cardiomyopathy, often manifesting early in life. Interestingly, some carriers remain asymptomatic with a normal life span. The mechanisms underlying disease progression remain unclear. We generated human induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells of two asymptomatic Greek PLN-R14del carriers and one non-carrier relative. These iPSC lines exhibit typical morphology and markers of undifferentiated hPSC state, providing an in vitro platform to investigate disease mechanisms and gain insights into the patient-specific onset and progression of PLN-R14del cardiomyopathy.

U2 - 10.1016/j.scr.2025.103865

DO - 10.1016/j.scr.2025.103865

M3 - Article

C2 - 41176972

SN - 1873-5061

VL - 89

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 103865

ER -

Gaar-Humphreys KR, Balducci V, Pol F, Vafiadaki E, Anastasakis A, Kolokathis F et al. Generation and characterization of human induced pluripotent stem cell (iPSC) lines from two asymptomatic Greek carriers of the Phospholamban (PLN)-R14del pathogenic variant and a non-carrier relative. Stem Cell Research. 2025 Dec;89:103865. Epub 2025 Oct 30. doi: 10.1016/j.scr.2025.103865

Generation and characterization of human induced pluripotent stem cell (iPSC) lines from two asymptomatic Greek carriers of the Phospholamban (PLN)-R14del pathogenic variant and a non-carrier relative

Abstract

Access to Document

Fingerprint

Cite this