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.

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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
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article

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

Anke J. Tijsen, Anouk van den Bout, Dylan K. de Vries, Janneke Kouwenberg
Stem Cell Research
Pluripotent Stem Cells Research
article

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

Anke J. Tijsen, Anouk van den Bout, Dylan K. de Vries, Janneke Kouwenberg
article en

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.

Stem Cell ResearchVol. 92
Amsterdam Neuroscience (NL), Vrije Universiteit Amsterdam (NL), University of Amsterdam (NL)
Zero hunger
Openalex Percentile: Top 34%
Pluripotent Stem Cells Research
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