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CEP290-deficiency disrupts ciliary axonemal architecture in human iPSC-derived cerebral organoids

GSE293717 Homo sapiens Expression profiling by high throughput sequencing 4 samples Submitted 2025/10/22 Platform GPL24676
Summary
Primary cilia are ubiquitous sensory organelles mediating various signaling modalities essential for development and cell homeostasis. 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 iPSC-derived cerebral organoids harboring CEP290 mutations. To quantitatively investigate the impact of CEP290 loss on cerebral organoid differentiation, we conducted single-cell RNA-sequencing. 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.
Published in
CEP290 deficiency disrupts ciliary axonemal architecture in human iPSC-derived brain organoids
Eschment M, Mercey O, Aarts EM et al. · Journal of cell science 2025 · PMID 41064933 · doi:10.1242/jcs.264092
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Also filed as BioProject PRJNA1246098 and SRA study SRP576238. Searching any of these in the dataset finder brings you back here.

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