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bioRxiv · 10.1101/2025.03.31.646311

CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines

Figueiro-Silva, J.·Eschment, M.·Mennel, M.·Abidi, A.·Oneda, B.·Rauch, A.·Bachmann-Gagescu, R.
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Abstract

CEP290 is an important human disease gene, as mutations are implicated in a broad spectrum of autosomal recessive ciliopathies, including Leber congenital amaurosis and Joubert, Meckel, Senior-LOken or Bardet Biedl syndromes. To create isogenic mutant human induced pluripotent stem cell (hiPSC) lines for disease modeling, we employed CRISPR/Cas9 to introduce disease-relevant mutations into the control hiPSC line HMGU1 (ISFi001-A). Thorough characterization of the lines, including the effect of the mutation at the mRNA and protein level, shows that these CEP290-mutant lines provide a useful resource for studying ciliopathy disease mechanisms and cilia biology through differentiation into diverse cell types and organoids.

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Figueiro-Silva, J., Eschment, M., Mennel, M., Abidi, A., Oneda, B., Rauch, A., Bachmann-Gagescu, R.. 2025-04-02. CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines. https://doi.org/10.1101/2025.03.31.646311

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