Figure 2.

iPSC generation and cell type differentiation in rare BMP diseases. So far, iPSC lines have been successfully generated for three rare BMP diseases: Fibrodysplasia ossificans progressiva (FOP), Hereditary pulmonary arterial hypertension (HPAH), and Hereditary haemorrhagic telangiectasia (HHT). Various sources of somatic tissue have been explored for this purpose. Reprogramming efficiency may be affected by the BMP gene mutation, and small molecules, like LDN-193189, that aim to restore normal BMP signalling can be utilized. BMPs are potent inducers of mesoderm. Therefore, a combination of BMP agonists and Wnt antagonists (such as CHIR-99021) is employed to induce mesodermal differentiation. In order to generate vascular cells, ALK4/5/7 inhibition is often necessary in a subsequent step.