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Fig. 1 | Stem Cell Research & Therapy

Fig. 1

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

Fig. 1

Changes in EHMT1 protein expression in EHMT1_SNV cells. a Two-dimensional protein structure of EHMT1_WT and EHMT1_SNV with Ankyrin repeat domain (ANK Repeats), PreSET domain, and SET domain. b Three dimensional structure of EHMT1_WT and EHMT1_SNV indicating Pre-SET domain (light blue), and the SET domain with methyl transferase activity in blue and red, In the EHMT1_WT protein the red colouring indicates the region absent in the EHMT1_pGln1144* mutant protein., and the green indicates the truncated protein stop codon. c Western blot of EHMT1 and b-actin protein expression in EHMT1_WT cells and EHMT1_SNV cells. d Bar graph indicates EHMT1 protein expression normalized to b-actin control (paired t-test, one-tailed, *p < 0.05). e, Immunohistochemistry staining of EHMT1 and NucBlue, and merged image, in EHMT1_WT and EHMT1_SNV iPSCs, white bar indicates 50micron

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Stem Cell Research & Therapy

ISSN: 1757-6512