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Chunk #29 — Results

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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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To annotate the genomes of Family-811 quartet with genetic variants of potential relevance to neuropsychiatric disorder etiology, we analyzed the whole-genome SNP profiles of the Family-811 quartet and confirmed the SNP genotypes of a subset of the peak risk variants from the most recent Psychiatric Genetics Consortium GWAS (Sup. Table 3). These targeted genotyping assays indicated that all four Family-811 members were homozygous reference for the BD risk allele in SYNE1 and ANK3. GM08329 (mother) was heterozygous for the risk allele of CACNA1C while the remaining family members were homozygous reference for the BD risk allele. All family members in the quartet were heterozygous reference for the BD risk allele in ODZ4 (TNM4) except GM05225 who was homozygous reference. Finally, all family members were found to be heterozygous reference for a ZNF804A schizophrenia risk allele.