Transcriptomics

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Neuronal Defects in a Human Cellular Model of 22q11.2 Deletion Syndrome


ABSTRACT: 22q11.2 deletion syndrome (22q11DS) is a common cause of developmental neuropsychiatric disorders, including psychosis, autism and epilepsy. This highly penetrant genetic syndrome provides a unique opportunity to mitigate the challenges raised by the heterogeneity of complex mental disorders and to identify specific neuronal phenotypes. Here, we generated induced pluripotent stem cells from subjects carrying a 3 Mb deletion at the 22q11.2 locus and from controls and differentiated these cells in vitro into three-dimensional organoid resembling the developing cerebral cortex. We performed single-cell RNA-sequencing to establish the reliability and reproducibility of cortical organoid differentiation in 22q11DS.

ORGANISM(S): Homo sapiens

PROVIDER: GSE145122 | GEO | 2020/07/08

REPOSITORIES: GEO

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