Department of Neurosciences, Psychology, Drugs and Child Health, University of Florence, Florence, Italy.
Department of Cardiology, Laboratory of Experimental Cardiology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Stem Cell Res. 2023 Oct;72:103208. doi: 10.1016/j.scr.2023.103208. Epub 2023 Sep 21.
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.
PLN-c.(40_42delAGA) 这一罕见的基因突变导致磷蛋白磷酸酶结合蛋白第 14 位精氨酸缺失（p.R14del），与成年早期发生的扩张型和心律失常性心肌病有关。然而，一些携带者在血液采集时无症状，且寿命正常。在这里，我们报告了从五个 PLN-R14del 携带者的外周血单核细胞（PBMC）和一个非携带者的家族成员中生成的人诱导多能干细胞（iPSC）系。每个系均表现出典型的 iPSC 形态、多能性标记和三系分化。这些细胞系为研究 PLN-R14del 诱导的心肌病的发病机制、进展和患者特异性抵抗机制提供了有价值的模型。
