Additional file 2: Figure S1. of Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion stem cell-derived neurons

Copy number and breakpoint analysis by FISH. Examples of each cell line are shown. All cell lines were analyzed with NIPA1 + SNRPN or TRPM1 + SNRPN. At least 15 cell preparations were analyzed for each line to determine the breakpoints and copy numbers. Note, DPSC line TP-041 is an interstitial duplication line with three copies of the BP2-BP3 region (green signals) but only one copy of the BP1-BP3 or BP4-BP5 regions (red signals). Fig. S2 Boxplots for specific genes of interest mentioned in the text. These are the RPKM averages across all three biological replicates for DPSC and DPSC neuronal cultures and for control (red), Dup15q (blue), and AS (green) for each gene of interest. Error bars are standard deviation. Fig. S3 PSD95 staining of DPSC and DPSC-derived neurons. A band correlating to PSD95 is seen in the DPSC-neuronal cultures. Unfortunately, a cross-reactive band also present in the ι-goat secondary alone blot interfered with the signal for PSD95 in DPSC alone making quantification impossible (top versus middle lane). GAPDH was used as a loading control. (PDF 3128 kb)