Generation of induced pluripotent stem cell line carrying frameshift variants in NPHP1 (UCSFi001-A-68) using CRISPR/Cas9
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Developmental Biology,General Medicine
Reference4 articles.
1. NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders;Castori;J. Med. Genetics,2005
2. Defective INPP5E distribution in NPHP1-related senior-loken syndrome;Ning;Mol. Genetics Genomic Med.,2020
3. Mapping the NPHP-JBTS-MKs protein network reveals ciliopathy disease genes and pathways;Sang;Cell,2011
4. Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis;Saunier;Am. J. Hum. Genetics,2000
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1. Patient-derived and gene-edited pluripotent stem cells lacking NPHP1 recapitulate juvenile nephronophthisis in abnormalities of primary cilia and renal cyst formation;Frontiers in Cell and Developmental Biology;2024-06-26
2. Navigating Human Astrocyte Differentiation: Direct and Rapid one-step Differentiation of Induced Pluripotent Stem Cells to Functional Astrocytes Supporting Neuronal Network development;2024-03-29
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