CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines
Preprint
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-LØken 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.
Keywords:
Ciliopathies, hiPSC lines, CRISPR, Cas9
Read the full publication here:
Figueiro-Silva, Joana; Eschment, Melanie; Mennel, Michelle; Abidi, Affef; Oneda, Beatrice; Rauch, Anita; Bachmann-Gagescu, Ruxandra (2025).
CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines
DOI: 10.1101/2025.03.31.646311, S2CID: 277509530, bioRxiv, Cold Spring Harbor Laboratory, 646311. 2025, April 2.