Modeling of lung phenotype of Hermansky-Pudlak syndrome type I using patient-specific iPS cells (NaPi2Bhigh cells)

We generated iPSCs from HPS1 patient-derived fibroblasts with bi-allelic c.1472_1487dup16 variant in HPS1 gene and their gene-corrected ones and differentiated them into alveolar epithelial cells in organoids for disease modeling of HPS1. Overall design: HPS1 patient-specific iPSCs and their gene corrected ones were differentiated into NKX2-1 positive lung progenitor cells. NKX2-1 positive lung progenitor cells enriched by the surface expression of CPM were cocultured with human fetal lung fibroblasts to generate alveolar epithelial type 2 (AT2) cells. AT2 cells were passaged 3 times by the surface expression of NaPi2B and isolated with NaPi2B high expression.