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. Author manuscript; available in PMC: 2023 Apr 27.
Published in final edited form as: Nat Genet. 2022 Oct 27;54(11):1690–1701. doi: 10.1038/s41588-022-01202-z

Fig. 5. Single-cell RNA sequencing of human ADPKD kidney tissue compared to healthy human kidney tissue and gene edited PKD1-/- and PKD2-/- tubuloids.

Fig. 5

a, Overview of the human kidney tissue and PKD1/2 genotype used for single-nucleus RNA sequencing (snRNA-seq) and UMAP embedding of n = 26,509 single cells from the 5 human kidney samples. Labels refer to identified cell types. EC, endothelial cells; Mac, macrophages; Fib, fibroblasts; vSMC, vascular smooth muscle cells; PT, proximal tubular cells; Pod, podocytes; vSMC, vascular smooth muscle cells; IC-A/B, intercalated cells A/B; DCT, distal convoluted tubular cells; PC-CD/CNT, principal cells of connecting tubule/collecting duct; TAL, thick ascending limb tubular cells; unk, unknown. b, Top 5 upregulated genes in human ADPKD vs donor biopsies c, Scheme of gene editing and single-cell RNA sequencing (scRNA-seq) in tubuloids. UMAP embedding of n = 496 single cells from PKD1 gene edited tubuloids (4-phase, PKD1-/-)(middle) and n = 1,483 cells from PKD2 gene edited tubuloids (PKD2-/-)(right), tubuloid progenitor cells (TPC). d, Common dysregulated pathways obtained from gene set enrichment with KEGG pathway analysis using all differentially expressed genes in human ADPKD vs donor biopsies in PT-4 and TAL-2 cells with the cells of the tubuloids that mapped to PT-4 and TAL-2 using Symphony. e-f, Top selected commonly upregulated genes in human ADPKD vs donor biopsies and the cells that mapped to PT-4 (e) and TAL-2 (f) in gene edited tubuloids (PKD-/- tubuloids) vs control tubuloids. g, Gene set over-representation analysis with Reactome pathways for the common upregulated genes in human tissue (ADPKD vs donor biopsies) and tubuloids (PKD-/- vs control).