Patient-derived brain organoids uncover reversible cellular abnormalities in Pitt-Hopkins Syndrome III

We evaluate cellular phenotypic abnormalities and alterations in molecular pathways due to mutations in the gene TCF4 in cells derived from Pitt-Hopkins patients, in comparison with respective controls (parents). Comparison between single cell RNA-Seq libraries of brain organoids derived from Pitt-Hopkins Syndrome patients and respective parents of matching sex.