Generation of the human induced pluripotent stem cell (hiPSC) line AUMCi015-A from a heterozygous carrier of the LMNA p.Q493X rare pathogenic variant
Abstract
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.
Fields of Study & Subjects
Pluripotent Stem Cells Research
Congenital heart defects research
CRISPR and Genetic Engineering
Publication details
- Journal / source
- Stem Cell Research
- Volume
- 92
- Pages
- 103962–103962
- Publication date
- 5 March 2026
- Language
- EN