Key result
Three human induced pluripotent stem cell (iPSC) lines were successfully generated from PBMCs of three DCM patients carrying the LMNA c.1129C > T mutation, showing normal pluripotency and karyotype.
The successful generation of these iPSC lines provides a valuable in vitro model for studying the pathological mechanisms of LMNA-related dilated cardiomyopathy.
Patient-specific iPSC lines enable LMNA-DCM modeling; leaves open phenotype validation and therapeutic screening.
LMNA-related dilated cardiomyopathy (DCM) is caused by pathogenic variants in LMNA and is characterized by left ventricular 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.1129C > T, in LMNA. All lines expressed normal iPSC morphology, high levels of pluripotent markers, normal karyotypes, and could differentiate into the three germ layers. These iPSC lines can serve as invaluable tools to model pathological mechanisms of DCM in vitro caused by LMNA mutations.
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Lee et al. (2021) studied LMNA-related dilated cardiomyopathy (DCM) (n=3). Generation of iPSC lines was evaluated on iPSC morphology, pluripotent markers, karyotypes, and differentiation capacity. Three human induced pluripotent stem cell (iPSC) lines were successfully generated from PBMCs of three DCM patients carrying the LMNA c.1129C > T mutation, showing normal pluripotency and karyotype.
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