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Fig. 3 | Stem Cell Research & Therapy

Fig. 3

From: CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency

Fig. 3

Differences in gene expression during differentiation for EHMT1_WT and EHMT1_SNV cells. iPSC clones for EHMT1_WT and EHMT1_SNV, were differentiated to NPCs and DEGs determined for the differences in expression during differentiation. a Volcano plot for EHMT1_SNV compared to EHMT1_WT for the differences in expression during differentiation. DEGs are shown in red. Grey dot adjusted p ≥ 0.05 and |log2FC|≤ 1; green dot adjusted p ≥ 0.05 and |log2FC|> 1; blue dot adjusted p < 0.05 and |log2FC|≤ 1; red dot adjusted p < 0.05 and |log2FC|> 1. b Dot plots of significantly enriched gene sets associated with differences in expression during differentiation identified with Enrichr. c Enrichment plots for GSEA hallmark significant gene sets for genes showing upregulation during differentiation for EHMT1_SNV compared to EHMT1_WT. d Enrichment plots for GSEA hallmark significant gene sets for genes showing downregulation during differentiation for EHMT1_SNV compared to EHMT1_WT

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