Investigation of de novo mutations in a schizophrenia case-parent trio by induced pluripotent stem cell-based in vitro disease modeling: convergence of schizophrenia- and autism-related cellular phenotypes.
Edit HathyEszter SzabóNóra VargaZsuzsa ErdeiCsongor TordaiBoróka CzehlárMáté BaraditsBálint JezsóJúlia KollerLászló NagyMária Judit MolnárLászló HomolyaZsófia NemodaÁgota ApátiJános M RéthelyiPublished in: Stem cell research & therapy (2020)
Our study investigated only one family; therefore, the generalizability of findings is limited. We could not derive iPSCs from two other siblings to test for possible genetic effects in the family that are not driven by DNMs. The transcriptomic and functional assays were limited to the NPC stage, although these variables should also be investigated at the mature neuronal stage.