Journal
STEM CELL RESEARCH
Volume 73, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.scr.2023.103223
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Researchers generated a mutant hiPSC line from patient-derived cells, which could serve as an in vitro model to study sinus node dysfunction and develop pharmacological rescue strategies.
A published heterozygous gain-of-function variant in the KCNJ5 gene (p.Trp101Cys) encoding the G-protein-activated inward-rectifier potassium channel 4 subunit of the IK,ACh channel is associated with human sinus node dysfunction (SND). Differentiated hiPSC-cardiomyocytes may serve as an in-vitro model to study SND and to develop pharmacological rescue strategies. Therefore, a mutant hiPSCs line from patient-derived peripheral blood mononuclear cells (PBMCs) were reprogrammed with CytoTune-iPS 2.0 Sendai Reprogramming Kit. The hiPSC line (KCNJ5 K8) showed a regular karyotype, a typical hiPSC morphology, expressed pluripotencyassociated markers in immunofluorescence stainings and RT-qPCR analysis. The ability for differentiation into all three germ layers was shown.
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