Key result
Human induced pluripotent stem cells from a KCNQ1-R594Q carrier successfully differentiate into spontaneously beating cardiomyocytes.
The generation of this hiPSC line provides a cellular model for studying the KCNQ1-R594Q mutation associated with cardiac arrhythmias.
May model KCNQ1-R594Q arrhythmias in vitro; leaves open clinical translation as hypothesis-generating preclinical data.
We generated human induced pluripotent stem cells (hiPSCs) from dermal fibroblasts of a male carrier of the heterozygous mutation c.1781 G > A p.R594Q on the KCNQ1 gene. hiPSCs, generated using four retroviruses each encoding for OCT4, SOX2, KLF4 and cMYC, display pluripotent stem cell characteristics, and can be differentiated into spontaneously beating cardiomyocytes (hiPSC-CMs).
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Mura et al. (2019) studied this question. Human induced pluripotent stem cells generated from a KCNQ1-R594Q mutation carrier display pluripotent characteristics and can differentiate into spontaneously beating cardiomyocytes.
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