Generation of a patient-specific hiPS cell line with heterozygous GNB2 mutation (UKMi003-A) causative for human sinus node dysfunction and a corresponding CRISPR/Cas9-corrected isogenic control (UKMi004-A)
Summary
The heterozygous mutation c.155G > T in GNB2 clinically leads to sinus bradycardia and sinus node dysfunction. Here, patient-specific skin fibroblasts of the mutation carrier were used for Sendai virus reprogramming into human induced-pluripotent stem cells (hiPSC). For generating the isogenic control cell line, a CRISPR/Cas9-mediated HDR-repair of the hiPSCs was carried out. Both generated cell lines (GNB2 SV5528, GNB2 K26) maintained a normal karyotype, cell morphology, pluripotency in immunofluoresence and RT-qPCR analysis. Both hiPSC-lines showed differentiation potential into all three germ layers. Differentiated cardiomyocytes of this isogenic set may pave the way for investigating pharmacological rescue strategies for sinus node dysfunction. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Kayser A, Dittmann S, Hamidi J, Laufer SD, Krampe R, Mearini G, Hansen A, Schulze-Bahr E |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Aug;78:103446 |
| PubMed | 38776645 |
| DOI | 10.1016/j.scr.2024.103446 |