Generation of the human induced pluripotent stem cell (hiPSC) line AUMCi015-A from a heterozygous carrier of the LMNA p.Q493X rare pathogenic variant

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Authors: Dylan K. de Vries, Anouk van den Bout, Hugoline de Haan, Janneke Kouwenberg, Anke J. Tijsen
Cited by: 0
References: 4

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