Establishment of CRISPR/Cas9-edited LEMD2 knock-in (UKWCHFi001-B-1) and knock-out (UKWCHFi001-B-2) iPSC lines to investigate the mechanisms of LEMD2-associated cardiomyopathy
Summary
LEMD2 is an inner nuclear membrane protein. The pathogenic LEMD2 variant (NM_181336.4: c.38 T > G, p.L13R) has been associated with an inherited cardiomyopathy characterized by left ventricular dysfunction and severe arrhythmias. To gain more insights into this disease and investigate the role of LEMD2 more broadly, LEMD2 p.L13R knock-in (LEMD2-KI; UKWCHFi001-B-1) and knock-out (LEMD2-KO; UKWCHFi001-B-2) iPSC lines were generated in a healthy control iPSC (UKWCHFi001-B) line using CRISPR/Cas9 gene editing. Both new iPSC lines retained pluripotency, normal karyotypes, and differentiation potential, whereby expression of LEMD2 was successfully disrupted in LEMD2-KO cells. Thus, these lines provide a suitable model for analyzing LEMD2-associated diseases. Copyright © 2026 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Buchmann S, Aldinger A, Klopocki E, Gerull B |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Jun 26;95:104049 |
| PubMed | 42385351 |
| DOI | 10.1016/j.scr.2026.104049 |