Fig. 5

Disease modeling of HPS1 in the patient-derived AOs. A, B Proteomic analysis of EpCAM⁺ cells isolated from AOs. EpCAM⁺ cells in HPS1 patient-specific and their gene-corrected AOs after 2 passages using NaPi2B-based sorting were subjected to further analysis. Gene ontology enrichment analysis of biological process was performed for upregulated proteins with log₂ (fold change) > 0.5 or downregulated proteins with log₂ (fold change) < − 0.5. C Gene set enrichment analysis to “KEGG_OXIDATIVE_PHOSPHORYLATION” for comparison of protein expression between HPS1 patient-specific iPSC-derived epithelial cells of AOs with their gene-corrected counterparts. D, E Flow cytometric analysis of mitochondrial membrane potential using tetramethylrhodamine, ethyl ester (TMRE). AOs after 2–4 passages using NaPi2B-based sorting were used for analysis. Upper dot plot: patient-derived EpCAM⁺ cells. Lower dot plot: gene-corrected counterparts. Data are presented as mean ± SEM (n = 4 from 3 independent experiments). Mann–Whitney U test: *P < 0.05. F Immunofluorescent imaging of AOs in each condition. Green, EpCAM; Red, ABCA3; Blue, nuclei (Hoechst). (Scale bars: 2 μm) G Transmission electron microscope images of lamellar bodies in AOs in each condition. (Scale bars: 2 μm)