AI Article Synopsis
- CEP290 is crucial for the function of primary cilia and is associated with various ciliopathies, which show diverse symptoms but weak genotype-phenotype correlation.
- Researchers used CRISPR/Cas9 to create a line of induced pluripotent stem cells that have no CEP290 expression while maintaining normal genetic structure and differentiation abilities.
- This new cell line will aid in exploring the effects of CEP290 mutations and related disorders.
Article Abstract
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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8127132 | PMC |
| http://dx.doi.org/10.1016/j.scr.2021.102243 | DOI Listing |
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