Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients

ABSTR A C T 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 mono-nuclear 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.

Automated summary

In this study, three iPSC lines were generated from PBMCs of DCM patients carrying the same LMNA gene mutation. These iPSC lines exhibited normal morphology, expressed pluripotency markers, and could differentiate into the three germ layers. These patient-specific iPSC lines can be used as valuable tools to model the pathological mechanisms of LMNA-DCM in vitro.