Zhao et al. (2018) have found the altered neuronal excitability, mitochondrial dysfunction, and increased sensitivity to hypoxic stress in iPSC-derived neurons from patients with chronic mountain sickness compared with the control condition. Besides, another study has also established a library of iPSCs derived from the Chinese Han and Tibetan individuals. After differentiation into vascular endothelium, the researchers identify that a hypoxia-dependent enhancer (ENH5) is a key adaptive allele that regulates the EPAS1 gene (encoding HIF-2α) in endothelium (Gray et al., 2025). This evidence concerns the gene EPAS1 and chronic mountain sickness.