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. 2024 Apr 8;111(5):841–862. doi: 10.1016/j.ajhg.2024.03.007

Figure 1.

Figure 1

Activation of low-expression OMIM-N genes in participants' fibroblasts

(A) Expression levels of OMIM-N genes in clinically assessable tissues. Gene expression levels were classified as follows: low (TPM < 1), moderate (TPM ≥ 1 and <10), and high (TPM ≥ 10). Fibroblasts (FB) RNA-seq data from GTEx and UDN participants (n = 77) were used for the assessment.

(B) Schematic of the workflow of iNeuron transdifferentiation and RNA-seq. Created with BioRender.com.

(C) Functional enrichment analysis of DEGs up-regulated in iNeurons.

(D) Robust expression of neuron-specific genes in iNeurons.

(E–H) Immunofluorescence staining of neuronal makers Tubulin β-III (TUBB3) (F) and MAP2 (G) in iNeurons. Nuclei were stained using DAPI (H). The merged image is shown in (E). Scale bar represents 100 μm.

(I) Volcano plot showing activation of low-expression OMIM-N genes.