Ex Vivo Models of Chronic Granulomatous Disease

Induced pluripotent stem cells (iPSCs) are pluripotent stem cells that can be established from dedifferentiation of all somatic cell types by epigenetic phenomena. iPSCs can be differentiated into any mature cells like neurons, hepatocytes, or pancreatic cells that have not been easily available to date. Thus, iPSCs are widely used for disease modeling, drug discovery, and cell therapy development. Here, we describe a protocol to obtain human mature and functional neutrophils and macrophages as ex vivo models of X-linked chronic granulomatous disease (X-CGD). This method can be applied to model the other genetic forms of CGD. We also describe methods for testing the characteristics and functions of neutrophils and macrophages by morphology, phagocytosis assay, release of granule markers or cytokines, cell surface markers, and NADPH oxidase activity.