Article
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.
Stem cell research - 1 Jul 2022
Wang Qing, Zhang Yike, Zhang Feng, Li Zhaomin, Cheng Hongyi, Lin Yongping, Zhu Yue, Chen Hongwu, Cui Chang, Chen Minglong
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
