Overall, our phenotypic characterization of the two affected BD sons to their unaffected parents at the level of cellular and molecule profiles revealed a number of significant and consistent differences (summarized in Sup. Table 14). Given the neurodevelopmental phenotypes we observed in the BD iPSCs relative to their parental controls, of paramount importance to the interpretation of these results was to demonstrate that the BD iPSCs did not exhibit generic differences in their pluripotency and capacity to differentiate into other non-neuronal tissues. We addressed this potential concern for all 12 iPSCs lines three ways: 1) demonstrating the expression of a panel of appropriate pluripotency markers through immunostaining and mRNA assays; 2) demonstrating the capacity to form multiple germ layers through in vivo teratoma formation; and 3) genome-wide expression profiling and the use of PluriTest as a computational method to benchmark our iPSCs to other pluripotent stem cells. After first establishing the pluripotency of all three iPSCs generated from each of the Family-811 quartet members through multiple methods, and demonstrating a lack of an overall differentiation deficit into multiple germ layers,
