Transcriptome analysis of neural progenitor cells derived from Lowe syndrome induced pluripotent stem cells: identification of candidate genes for the neurodevelopmental and eye manifestations.

At a nominally significant level ( p < 0.05), 319 DEGs were found (164 genes expressed at higher levels in LS; 155 lower) (Additional file 5 : Table S2).

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For example, transcriptome analyses on NPCs, monolayer neurons, and cerebral organoids derived from CHD8 haploinsufficient iPSC lines resulted in hundreds of shared DEGs with highly significant enrichment of pathways relevant to ASD pathogenesis [ 28 , 30 ].

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