Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands; Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, Netherlands.
Stem Cell Res. 2023 Apr;68:103053. doi: 10.1016/j.scr.2023.103053. Epub 2023 Feb 17.
NPHP1 (Nephrocystin 1) is a protein that localizes to the transition zone of the cilium, a small organelle that projects from the plasma membrane of most cells and allows for integration and coordination of signalling pathways during development and homeostasis. Loss of NPHP1 function due to biallelic NPHP1 gene mutations can lead to the development of ciliopathies - a heterogeneous spectra of disorders characterized by ciliary dysfunction. Here we report the generation of an NPHP1-null hiPSC line (UCSFi001-A-68) via CRISPR/Cas9-mediated non-homologous end joining in the UCSFi001-A background, for study of the role that this protein plays in different tissues.
NPHP1（nephrocystin 1）是一种定位于纤毛过渡区的蛋白，纤毛是一种从大多数细胞的质膜伸出的小细胞器，允许在发育和动态平衡期间整合和协调信号通路。由于 NPHP1 基因的双等位基因突变导致 NPHP1 功能丧失，可能导致纤毛病——一种以纤毛功能障碍为特征的异质疾病谱。在这里，我们通过 CRISPR/Cas9 介导的非同源末端连接在 UCSFi001-A 背景下生成了一个 NPHP1 缺失的 hiPSC 系（UCSFi001-A-68），用于研究该蛋白在不同组织中的作用。
