Generation of the human iPSC line (AHJNMUi001-A) from a patient with arrhythmogenic right ventricular cardiomyopathy (ARVC) carrying the LMNA c.821C>T pathogenic variant
Summary
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary infiltrative cardiomyopathy characterized by fibrofatty replacement of the right ventricular myocardium, which may extend to the left ventricle in the advanced stages. Clinically, the condition is commonly associated with right ventricular dilation, malignant arrhythmias, and an increased risk of sudden cardiac death. In this study, we successfully established induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells of ARVC patients carrying a heterozygous LMNA gene mutation (c.821C>T, p.A274D), using a non-integrating Sendai virus-based reprogramming method. The resulting cell lines displayed typical pluripotent stem cell morphology, a normal karyotype, and trilineage differentiation potential. Furthermore, they stably expressed key pluripotency markers, making them a valuable model for investigating the pathophysiological mechanisms of ARVC and for drug screening. This model holds significant translational potential for precision medicine. Copyright © 2025 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Han Y, Wang H, Zhang H, Wang M, Gan L, Meng F |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Sep 7;88:103830 |
| PubMed | 40925291 |
| DOI | 10.1016/j.scr.2025.103830 |