Knockout of the CEP290 gene in human induced pluripotent stem cells


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. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Fogerty J, Perkins BD
Journal Stem cell research
Publication Date 2021 Apr;52:102243
PubMed 33626495
PubMed Central PMC8127132
DOI 10.1016/j.scr.2021.102243

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