TY - JOUR
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
N1 - Publisher Copyright:
© 2023 The Author(s)
PY - 2023/10
Y1 - 2023/10
N2 - 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.
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.
UR - http://www.scopus.com/inward/record.url?scp=85171742579&partnerID=8YFLogxK
U2 - 10.1016/j.scr.2023.103208
DO - 10.1016/j.scr.2023.103208
M3 - Article
C2 - 37748331
AN - SCOPUS:85171742579
SN - 1873-5061
VL - 72
JO - Stem Cell Research
JF - Stem Cell Research
M1 - 103208
ER -