CRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines
Summary
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. Copyright © 2025 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Figueiro-Silva J, Eschment M, Mennel M, Abidi A, Oneda B, Rauch A, Bachmann-Gagescu R |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Jul 19;87:103781 |
| PubMed | 40701116 |
| DOI | 10.1016/j.scr.2025.103781 |