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杂合型KCNA2基因敲除诱导多能干细胞系的产生。

Generation of heterozygous KCNA2 knockout induced pluripotent stem cell line.

作者信息

Shan Wei, Cui Xiaomeng, Wang Dayan, Wang Baiqiang, Guo Xiangge, Wang Xumeng, Wang Jiaxuan, Li Yanting, An Guipeng, Ren Qian

机构信息

Department of neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, China; National Center for Clinical Medicine of Neurological Diseases, Beijing 10070, China.

Department of neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, China; Department of Neurology, Zibo City Hospital Combined of Traditional Chinese and Western Medicine, Zibo 255000, China.

出版信息

Stem Cell Res. 2024 Dec;81:103596. doi: 10.1016/j.scr.2024.103596. Epub 2024 Oct 21.

Abstract

The KCNA2 gene is the voltage-gated ion channel from both functional and structural perspectives. KCNA2 is involved in diverse functions including the regulation of neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. To investigate the relevant pathophysiological mechanisms, we generated heterozygous KCNA2 knockout human induced pluripotent stem cell (iPSC) line via CRISPR/Cas9 gene editing. The generated iPSCs had a normal karyotype, were free of genetically integrated epitaxial plasmids, expressed pluripotency markers, and maintained trilineage differentiation potential.

摘要

从功能和结构角度来看,KCNA2基因是电压门控离子通道。KCNA2参与多种功能,包括神经递质释放调节、心率、胰岛素分泌、神经元兴奋性、上皮电解质转运、平滑肌收缩和细胞体积调节。为了研究相关的病理生理机制,我们通过CRISPR/Cas9基因编辑生成了杂合KCNA2基因敲除的人诱导多能干细胞(iPSC)系。所生成的诱导多能干细胞具有正常的核型,不含基因整合的附加体质粒,表达多能性标志物,并保持三系分化潜能。

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