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Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Single cell RNA-seq of human cortical organoids carrying the CEP41 R242H mutation

ABSTRACT: 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.

INSTRUMENT(S): Illumina NovaSeq 6000

ORGANISM(S): Homo sapiens

SUBMITTER: Owen Dando

PROVIDER: E-MTAB-15192 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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