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Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients
Sangkyun Cho1, Chelsea Lee1, Celine Lai1
1Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA; Department of Medicine, Division of Cardiology, Stanford University School of Medicine, Stanford, CA 94305, USA.
Insights
Researchers created patient-specific induced pluripotent stem cell (iPSC) lines from dilated cardiomyopathy (DCM) patients with LMNA gene mutations. These iPSC lines are valuable tools for studying LMNA-DCM in vitro.
Area of Science:
- Cardiovascular Biology
- Stem Cell Biology
- Genetics
Background:
- LMNA-related dilated cardiomyopathy (LMNA-DCM) is a severe heart condition caused by mutations in the LMNA gene.
- It leads to enlarged left ventricles, impaired heart function, and arrhythmias.
Purpose of the Study:
- To generate patient-specific induced pluripotent stem cell (iPSC) lines from individuals with LMNA-DCM.
- To characterize these iPSC lines for their pluripotency and differentiation capacity.
- To establish a valuable in vitro model for studying the disease mechanisms of LMNA-DCM.
Main Methods:
- Collected peripheral blood mononuclear cells (PBMCs) from three DCM patients with a specific heterozygous LMNA mutation (c.398 G>A).
- Reprogrammed PBMCs into induced pluripotent stem cells (iPSCs).
- Assessed iPSC lines for morphology, pluripotency marker expression, karyotype stability, and differentiation potential into three germ layers.
Main Results:
- Successfully generated three patient-specific iPSC lines carrying the LMNA mutation.
- All iPSC lines displayed typical pluripotent stem cell morphology.
- Confirmed high expression of pluripotency markers, normal karyotypes, and successful differentiation into ectoderm, mesoderm, and endoderm.
Conclusions:
- Patient-derived iPSC lines with the LMNA mutation were successfully created.
- These iPSC lines maintain pluripotency and differentiation capabilities.
- The established iPSC lines provide a robust platform for investigating the in vitro pathogenesis of LMNA-DCM.
Abstract:
LMNA-related dilated cardiomyopathy (LMNA-DCM) is caused by pathogenic variants in the LMNA gene and is characterized by left ventricular chamber enlargement, reduced systolic function, and arrhythmia. Here, we generated three human induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) of three DCM patients carrying the same single heterozygous mutation, c.398 G > A, in LMNA. All lines exhibited normal iPSC morphology, expressed high levels of pluripotency markers, showed normal karyotypes, and could differentiate into the three germ layers. These patient-specific iPSC lines can serve as invaluable tools to model in vitro pathological mechanisms of LMNA-DCM.
