Stem cell researchHumansInduced Pluripotent Stem CellsCalcium-Binding ProteinsGreeceMale
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
Published: 202510.1016/j.scr.2025.103865
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…
Preview only. Read the full abstract at the source