Single cell RNA-sequencing analysis of human neural precursor cell (NPC) organoids with reciprocal 1q21.1 copy number variations (CNVs)

CNVs in the 1q21.1 region, both deletion and duplication, are associated with neurodevelopmental and neuropsychiatric disorders such as autism spectrum disorder, epilepsy and schizophrenia. To investigate how 1q21.1 CNVs affect the cell fate in the early brain development, we generated human ES cell lines with reciprocal 1q21.1 CNVs using CRISPR/Cas9 system. We differentiated these cells into 3-dimensional NPC cortical organoids and performed transcriptome analysis.