Demonstrates the generation of an induced pluripotent stem cell line to model dilated cardiomyopathy in a female patient, suggesting new avenues for research.
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 .
No takes yet. Share an insight, caveat, or question.
Vries et al. (2026) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: