The non-POU domain containing octamer-binding gene (NONO) encodes a member of a small family of RNA-binding and DNA-binding proteins, whose variants can cause intellectual disability and congenital heart defects. In this study, we generated a homozygous NONO knockout (NONO-KO) induced pluripotent stem cell (iPSC) line (CMUi002-A-1) using the CRISPR/Cas9-based genome editing system. The gene-edited line had a normal karyotype, expressed pluripotency markers, and was able to differentiate into all three germ layers in vivo. This cell line will provide a platform to study the pathogenic mechanisms of noncompaction cardiomyopathy and neurocyte dysfunction related to NONO mutations.

包含八聚体结合基因（NONO）的非POU结构域编码一小类RNA结合蛋白和DNA结合蛋白的成员，其变异可能导致智力残疾和先天性心脏病。在这项研究中，我们使用基于CRISPR / Cas9的基因组编辑系统生成了纯合NONO基因敲除（NONO-KO）诱导的多能干细胞（iPSC）系（CMUi002-A-1）。经基因编辑的品系具有正常的核型，表达多能性标记，并且能够在体内分化为所有三个胚层。该细胞系将为研究非致密性心肌病和与NONO突变相关的神经细胞功能障碍的致病机制提供平台。