建立一个在DGCR8基因中存在杂合突变的人类胚胎干细胞克隆。

Establishing a human embryonic stem cell clone with a heterozygous mutation in the DGCR8 gene.

作者信息

Reé Dóra, Borsy Adrienn, Fóthi Ábel, Orbán Tamás I, Várady György, Erdei Zsuzsa, Sarkadi Balázs, Réthelyi János, Varga Nóra, Apáti Ágota

机构信息

Institute of Enzymology, Research Centre for Natural Sciences, Budapest, Hungary.

Department of Psychiatry and Psychotherapy, Semmelweis University, Budapest, Hungary; Molecular Psychiatry Research Group, National Brain Research Program (NAP), Hungarian Academy of Sciences and Semmelweis University, Budapest, Hungary.

出版信息

Stem Cell Res. 2020 Dec 22;50:102134. doi: 10.1016/j.scr.2020.102134.

DOI:10.1016/j.scr.2020.102134

PMID:33360445

Abstract

DiGeorge Syndrome (DGS) Critical Region 8 (DGCR8) is a primary candidate gene in they DGS. The DGCR8 microprocessor complex subunit is an essential cofactor in the canonical miRNA biogenesis which is involved in diverse cellular functions such as cell fate decisions, apoptosis and different signaling pathways. However, the role of DGCR8 in these processes or development of DGS is not fully understood. Here we present a heterozygous DGCR8 mutant human embryonic stem cell line (HuES9) created by the CRISPR/Cas9 system. The generated HuES9 cells maintain normal karyotype, morphology, pluripotency and differentiation capacity into all three germ layers.

摘要

迪乔治综合征（DGS）关键区域8（DGCR8）是DGS中的一个主要候选基因。DGCR8微处理器复合体亚基是经典miRNA生物合成过程中一个必不可少的辅助因子，该过程涉及多种细胞功能，如细胞命运决定、细胞凋亡和不同的信号通路。然而，DGCR8在这些过程或DGS发生发展中的作用尚未完全明确。在此，我们展示了一种通过CRISPR/Cas9系统创建的杂合DGCR8突变人类胚胎干细胞系（HuES9）。所产生的HuES9细胞保持正常的核型、形态、多能性以及向所有三个胚层分化的能力。