Single cell RNA-seq of human cortical organoids carrying the CEP41 R242H mutation
Evidence suggests a potential role for ciliopathy in Autism Spectrum Disorder aetiology, including the identification of autism-specific mutations in several ciliary genes. One of these, CEP41, encodes a centrosomal protein located at the basal body and in the ciliary axoneme. The CEP41 R242H missense mutation is predicted to have a deleterious effect on the structure of CEP41's evolutionarily conserved rhodamine domain.  Here we generated human iPSC cell lines with a homozygous R242H mutation. Control and CEP41 mutant iPSC lines were then differentiated into cerebral organoids, and single cell RNA-seq was performed after 6 and 10 weeks of development.