Generation of a human induced pluripotent stem cell line (JSPHi002-A) from a patient with long-QT syndrome type 1 caused by KCNQ1 c.773A > T mutation
Qing Wang, Yike Zhang, Feng Zhang, Zhaomin Li, Hongyi Cheng, Yongping Lin, Yue Zhu, Hongwu Chen, Chang Cui, Minglong Chen
Journal：Stem Cell Research
IF：1.59
DOI：10.1016/j.scr.2022.102810
PMID：35580545
Published：2022-05-10
research field：细胞生物学铁代谢肝脏病学治疗学分子医学
Abstract
We generated an iPSCs line from the peripheral blood mononuclear cells (PBMCs) collected from a patient with long QT syndrome type 1 (LQT1) via a non-integrating system. We identified and verified a missense mutation in the KCNQ1 gene (c.773A > T) by whole-exome sequencing and Sanger sequencing. The established iPSC line was tested for pluripotency, differentiation potential, and karyotype. This cell-based model can help study the molecular mechanism and develop personalized drug therapies for LQT1.
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