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. 2022 Aug 11;54(9):1406–1416. doi: 10.1038/s41588-022-01147-3

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© The Author(s) 2022

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 5 — a, PC analysis showing hiPSCs distribution based on their transcriptome expression. Transcriptomics changes are correlated with BCOR mutation VAF values. 0* denotes that no BCOR mutations were found in hiPSC parental lines but were seen in their subclones. b, Volcano plot of differential gene expression analysis in hiPSCs with BCOR mutations (BCOR-mut) and no BCOR mutations (BCOR-wt) lines. FC, fold change. c, Heatmap of relative expression levels of members of noncanonical polycomb repressive complex 1.1 (PRC1.1), hiPSCs pluripotency and the three germ layers markers for two BCOR-wt (blue: MSH34i2, MSH30i3) and two BCOR-mut (orange: MSH40i2, MSH93i6) hiPSC lines. d, Immunofluorescence characterization of hiPSCs, neural stem cells (NSCs) and neurons at day 0, day 12 and day 27, respectively. Both BCOR-mut and BCOR-wt hiPSCs have similar undifferentiated morphology and express pluripotency markers OCT4/POU5F1 (red) and SSEA4 (green). BCOR-mut lines undergo inefficient neural induction, as highlighted by a reduced number of NSCs expressing PAX6 (green) at day 12 and a reduced number of neurons marked by TUBB3 (green) at day 27.