Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.K117insFs
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LMNA

NM_170707.4:p.K117insFs

Associated Papers

Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.

van der Wilt CN et al.

European Heart Journal Open, 2026

41536960 (PubMed )
Supplement: oeaf161_supplementary_data.zip › Table_S1_20251130.xlsx › Sheet1

Prime editing corrects the dilated cardiomyopathy causing RBM20-P633L-mutation in human cardiomyocytes.

Roman A et al.

Molecular Therapy. Nucleic Acids, 2025

The Pathogenic Mechanisms of and Novel Therapies for Lamin A/C-Related Dilated Cardiomyopathy Based on Patient-Specific Pluripotent Stem Cell Platforms and Animal Models.

Wu XY et al.

Pharmaceuticals (basel, Switzerland), 2024

The structure and function of lamin A/C: Special focus on cardiomyopathy and therapeutic interventions.

Tiwari V et al.

Life Sciences, 2024

Functional Evaluation of Human Bioengineered Cardiac Tissue Using iPS Cells Derived from a Patient with Lamin Variant Dilated Cardiomyopathy.

Miura K et al.

International Heart Journal, 2022

Drug Development and the Use of Induced Pluripotent Stem Cell-Derived Cardiomyocytes for Disease Modeling and Drug Toxicity Screening.

Ovics P et al.

International Journal of Molecular Sciences, 2020

Next-generation sequencing identifies a novel heterozygous I229T mutation on LMNA associated with familial cardiac conduction disease.

Gao Y et al.

Medicine, 2020

Activation of PDGF pathway links LMNA mutation to dilated cardiomyopathy.

Lee J et al.

Nature, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."