Patient-derived stem cell line UKMi005-A (hiPSC) harboring a non-synonymous heterozygous KCNJ5 gene variant
Summary
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 pluripotency-associated markers in immunofluorescence stainings and RT-qPCR analysis. The ability for differentiation into all three germ layers was shown. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Kayser A, Dittmann S, van Impel A, Šarić T, Schulze-Bahr E |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Dec;73:103223 |
| PubMed | 37890333 |
| DOI | 10.1016/j.scr.2023.103223 |