Derivation of Induced Pluripotent Stem Cells Line (RCPCMi009-A-1) with Knockout of the UBE2A Gene Using CRISPR/Cas9 Genome Editing

Pub Date : 2024-03-07 DOI:10.1134/s1062360423060048

E. A. Khomyakova, A. V. Fedorenko, A. V. Surdina, E. A. Volovikov, L. D. Belikova, E. A. Zerkalenkova, M. A. Lagarkova, A. N. Bogomazova

引用次数: 0

Abstract

The deletions and mutations in the UBE2A gene cause X-linked mental retardation syndrome of the Nascimento type first described in 2006 (Nascimento et al., 2006). At the moment, approximately two dozen missense and nonsense mutations in the UBE2A gene associated with Nascimento-type mental retardation syndrome are known (Cordeddu et al., 2020). To study the role of the UBE2A gene in neurodevelopment, the authors generated a human iPSC line with knockout of the UBE2A gene (RCPCMi009-A-1) using genome editing CRISPR/Cas9 technology. The knockout of the UBE2A gene was confirmed by Western blotting. The pluripotent state of the RCPCMi009-A-1 iPSC line was confirmed by typical stem cell morphology, normal male karyotype (46,XY) maintenance, expression of pluripotency markers, and the ability to differentiate into the derivatives of three germ layers.

Abstract Image

查看原文

利用 CRISPR/Cas9 基因组编辑技术敲除 UBE2A 基因，培育诱导多能干细胞系 (RCPCMi009-A-1)

摘要 UBE2A 基因的缺失和突变导致了 2006 年首次描述的纳西门托型 X 连锁智力低下综合征（Nascimento et al.）目前，已知与纳西门托型智力低下综合征相关的 UBE2A 基因错义突变和无义突变约有二十多种（Cordeddu 等人，2020 年）。为了研究 UBE2A 基因在神经发育过程中的作用，作者利用基因组编辑 CRISPR/Cas9 技术生成了敲除 UBE2A 基因的人类 iPSC 株系（RCPCMi009-A-1）。UBE2A 基因的敲除是通过 Western 印迹法确认的。RCPCMi009-A-1 iPSC株的多能状态通过典型的干细胞形态、正常男性核型（46,XY）的维持、多能性标记的表达以及分化成三个生殖层衍生物的能力得到了证实。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文