携带半合子敲除/突变型MECP2的四个H1人胚胎干细胞亚系的产生。

Generation of four H1 hESC sublines carrying a hemizygous knock-out/mutant MECP2.

作者信息

Zeng Ruizhu, Sidik Harwin, Robinson Kim S, Zhong Franklin L, Reversade Bruno, Pouladi Mahmoud A

机构信息

Translational Laboratory in Genetic Medicine, Agency for Science, Technology and Research, Singapore (A*STAR), 8A Biomedical Grove, Immunos, Level 5, 138648, Singapore.

Institute of Medical Biology, A*STAR, Immunos, 138648, Singapore; Skin Research Institute of Singapore, Immunos, 138648, Singapore.

出版信息

Stem Cell Res. 2019 Oct;40:101533. doi: 10.1016/j.scr.2019.101533. Epub 2019 Aug 9.

DOI:10.1016/j.scr.2019.101533

PMID:31450191

Abstract

Rett syndrome (RTT) is a childhood neurodevelopmental disorder caused by mutations in MECP2. To study the molecular mechanisms underlying RTT, four sublines of H1 hESCs were generated, carrying a hemizygous knockout or mutant allele of MECP2. Exons 3 and 4 of MECP2 were targeted using the CRISPR/Cas9 nuclease system.

摘要

雷特综合征（RTT）是一种由MECP2基因突变引起的儿童神经发育障碍。为了研究RTT潜在的分子机制，构建了四个H1人胚胎干细胞亚系，它们携带MECP2的半合子敲除或突变等位基因。使用CRISPR/Cas9核酸酶系统靶向MECP2的第3和第4外显子。