Establishment of an iPSC line (JSPHi001-A) from a patient with familial dilated cardiomyopathy and atrial fibrillation caused by LMNA missense mutation (c.1003C > T)

Peripheral blood mononuclear cells (PBMCs) were harvested and reprogramed to induced pluripotent stem cells (iPSCs) from a 46-year-old male patient with familial dilated cardiomyopathy and atrial fibrillation via a non-integrating system. A missense mutation in the LMNA gene (c.1003C > T) was identified by whole-exome sequencing and verified by Sanger sequencing. The pluripotency, differentiation potential, and karyotype of this cell line were also tested. This model is helpful to study the phenotype, mechanism, and therapy for laminopathy.

Automated summary

In this study, PBMCs from a 46-year-old male patient with familial dilated cardiomyopathy and atrial fibrillation were reprogrammed to iPSCs using a non-integrating system. A missense mutation in the LMNA gene was identified and verified, with pluripotency, differentiation potential, and karyotype of the cell line also being tested. This model serves as a valuable tool for studying laminopathy phenotype, mechanism, and therapy.