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Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients. Stem cell research Cho, S., Lee, C., Lai, C., Zhuge, Y., Haddad, F., Fowler, M., Sallam, K., Wu, J. C. 1800; 59: 102657

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.

View details for DOI 10.1016/j.scr.2022.102657

View details for PubMedID 34999423