Generation of the human induced pluripotent stem cell (hiPSC) line AUMCi015-A from a heterozygous carrier of the LMNA p.Q493X rare pathogenic variant
Summary
Dilated cardiomyopathy (DCM) caused by rare pathogenic variants in LMNA is a severe hereditary heart disease characterized by lethal arrythmias and progressive heart failure. Here, we describe a human induced pluripotent stem cell (hiPSC) line reprogrammed by non-integrative Sendai virus from dermal fibroblasts of a female DCM patient carrying the heterozygous LMNA p.Q493X rare pathogenic variant. The obtained hiPSCs have a normal karyotype, show high expression of pluripotency markers at the mRNA and protein level, and are able to differentiate into derivatives of all three germ layers. Therefore, this newly-generated hiPSC line enables modeling of DCM caused by rare pathogenic variants in LMNA. Copyright © 2026 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | de Vries DK, van den Bout A, de Haan H, Kouwenberg J, Tijsen AJ |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Apr;92:103962 |
| PubMed | 41797063 |
| DOI | 10.1016/j.scr.2026.103962 |