Key result
Novel patient-derived iPSC lines successfully model dilated cardiomyopathy linked to HCN4 variants.
Why the study?
Mutations in the HCN4 gene contribute to dilated cardiomyopathy, but the pathological mechanisms remain unclear.
iPSC lines enable HCN4-DCM modeling; hypothesis-generating for mechanisms, no practice change yet.
Dilated cardiomyopathy (DCM) is a progressive heart muscle disease that can culminate with heart failure and death. Mutations in several genes can cause DCM, including hyperpolarization-activated cyclic nucleotide-gated channel (HCN4), which has a critical function in the autonomic control of the heart rate. Here, we generated two human induced pluripotent stem cell (iPSC) lines generated from two DCM patients carrying variants in the HCN4 gene (c.2587G > T and c.2846G > A). Both lines display normal karyotype, typical morphology of pluripotent stem cells, and differentiate into all three germ layers in vitro. These lines are valuable resources for studying the pathological mechanisms of DCM.
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YILDIRIM et al. (2022) studied Dilated cardiomyopathy (n=2). Generation of induced pluripotent stem cell (iPSC) lines was evaluated on Generation and characterization of iPSC lines. Two human induced pluripotent stem cell lines were successfully generated from two dilated cardiomyopathy patients carrying HCN4 gene variants, displaying normal karyotypes and pluripotency.
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