Indeed, cell lines derived from human patients are already available for mutations related to ASD such as SHANK3, as well as for Fragile X, Rett syndrome, Down syndrome, and schizophrenia (Marchetto et al., 2010; Urbach et al., 2010; Brennand et al., 2011; Li et al., 2012). The gene discussed is SHANK3; the disease is atypical Rett syndrome.