Generation of the human induced pluripotent stem cell (hiPSC) line AUMCi015-A from a heterozygous carrier of the LMNA p.Q493X rare pathogenic variant
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.
Authors
- Anke J. Tijsen (ORCID: https://orcid.org/0000-0002-8030-8894)
- Anouk van den Bout (ORCID: https://orcid.org/0000-0001-8769-6853)
- Dylan K. de Vries
- Janneke Kouwenberg
Institutions
- Amsterdam Neuroscience (NL)
- Vrije Universiteit Amsterdam (NL)
- University of Amsterdam (NL)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2026-03-05
- DOI
- https://doi.org/10.1016/j.scr.2026.103962
- Primary Topic
- Pluripotent Stem Cells Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00