Generation of induced pluripotent stem cell line carrying frameshift variants in NPHP1 (UCSFi001-A-68) using CRISPR/Cas9

被引：1
|
作者：
Dyke, Emma [1 ]
Bijnagte-Schoenmaker, Chantal [1 ]
Wu, Ka Man [1 ]
Oudakker, Astrid [1 ,3 ]
Roepman, Ronald [1 ,2 ]
Kasri, Nael Nadif [1 ,3 ]
机构：
[1] Radboud Univ Nijmegen Med Ctr, Donders Inst Brain Cognit & Behav, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands
[2] Radboud Univ Nijmegen Med Ctr, Radboud Inst Mol Life Sci, NL-6525 GA Nijmegen, Netherlands
[3] Radboud Univ Nijmegen Med Ctr, Donders Inst Brain Cognit & Behav, Dept Cognit Neurosci, NL-6500 HB Nijmegen, Netherlands
来源：
STEM CELL RESEARCH | 2023年 / 68卷
关键词：
D O I：
10.1016/j.scr.2023.103053
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
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.
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页数：5
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