敲除人诱导多能干细胞中的 CEP290 基因。

Knockout of the CEP290 gene in human induced pluripotent stem cells.

机构信息

Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic, Cleveland, OH, USA.

出版信息

Stem Cell Res. 2021 Apr;52:102243. doi: 10.1016/j.scr.2021.102243. Epub 2021 Feb 11.

DOI:10.1016/j.scr.2021.102243

PMID:33626495

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8127132/

Abstract

CEP290 is a principal component of the primary cilium and is important for the proper function of ciliated cells. CEP290 mutations have been linked to numerous ciliopathies, with a wide range of phenotypic severities, but with poor genotype:phenotype correlation. Here we have used CRISPR/Cas9 technology to target the CEP290 gene and generate a line of induced pluripotent stem cells that lack detectable CEP290 expression, but retain a normal karyotype and differentiation potential. This line of cells will be useful for the study of disorders resulting from CEP290 mutations.

摘要

CEP290 是主要纤毛的主要成分，对于纤毛细胞的正常功能非常重要。CEP290 突变与多种纤毛病有关，表现型严重程度范围广泛，但基因型与表型相关性差。在这里，我们使用 CRISPR/Cas9 技术靶向 CEP290 基因，并生成一条缺乏可检测到的 CEP290 表达但保留正常核型和分化潜能的诱导多能干细胞系。这条细胞系将有助于研究由 CEP290 突变引起的疾病。