The rarity of the different syndromes, our close connection with clinicians and center for biological resources and our capacity to handle hiPSCs production, characterization, differentiation and end-user training greatly facilitate the development of in vitro cellular models of rare disease, in particular for the exploration of tissues which are not otherwise accessible. This unique situation gathering clinical management of patients and technological tools availability, led us to set a new facility to make our knowhow available to collaborative laboratories and open access to reprogramming technique for scientific community. The MaSC facility allows the production of human induced pluripotent stem cells to the direct benefit of patients. Besides, it opens new perspectives for the exploration of patho-mechanisms of these different diseases, identification of biomarkers and development of therapeutic strategies.