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Chunk #44 — Results — NanoString molecular profiling of iPSCs, NPCs and neurons from Family-811

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Characterization of bipolar disorder patient-specific induced pluripotent stem cells from a family reveals neurodevelopmental and mRNA expression abnormalities.
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Having confirmed successful neural differentiation and observed differential gene expression amongst the BD-patient CXCR4+ NPCs and neurons relative to unaffected parental controls, we sought to link these gene expression differences directly to known genetic risk factors neuropsychiatric disorders. To do so, we first analyzed if several genes implicated by recent GWAS by the Psychiatric GWAS Consortium52–54, ANK3 (Ankyrin 3), CACNA1C (Calcium channel, voltage-dependent, L type, alpha 1C subunit), ODZ4 (Odd Oz/ten-m homolog 4) and ZNF804A (Zinc finger protein 804A), were differentially expressed in the Family-811 quartet cells. While all four of these genes were expressed and exhibited increased expression after six weeks of neural differentiation, none were found to be differentially expressed between the BD patient and unaffected parent cells (Sup. Fig. 12).