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Their dysfunction leads to ciliopathies, human disorders often affecting the central nervous system. CEP290 is a major ciliopathy-associated gene that encodes a centrosomal and ciliary transition zone protein. CEP290 has been implicated in different cellular functions, including cell cycle control, ciliogenesis and control of ciliary membrane protein content. To investigate CEP290 dysfunction in human neurons, we generated human induced pluripotent stem cell (iPSC)-derived brain organoids harboring CEP290 mutations. We found that CEP290 deficiency does not affect cell cycle progression or organoid formation, despite a tendency for less mature neuronal populations and formation of choroid plexus in mutant organoids. Expansion microscopy revealed morphologically abnormal ventricular cilia in the CEP290 mutant organoid cells with bulging ciliary membranes around splayed distal axonemal microtubules. Such ciliary abnormalities might represent a tissue-specific consequence revealed by studying a human neuronal organoid model.<\/jats:p>","DOI":"10.1242\/jcs.264092","type":"journal-article","created":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T09:20:21Z","timestamp":1760001621000},"source":"Crossref","is-referenced-by-count":5,"title":["<i>CEP290<\/i>\n                    deficiency disrupts ciliary axonemal architecture in human iPSC-derived brain organoids"],"prefix":"10.1242","volume":"138","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6881-6570","authenticated-orcid":false,"given":"Melanie","family":"Eschment","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics, University of Zurich 1 , Wagistrasse 12, 8952 Schlieren ,","place":["Switzerland"]},{"name":"Clinical Research Priority Program of the University of Zurich Praeclare 2 , Wagistrasse 12, 8952 Schlieren ,","place":["Switzerland"]},{"name":"University of Zurich 3 Department of Molecular Life 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