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. 2020 Oct 29;10:18582. doi: 10.1038/s41598-020-75657-7

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© The Author(s) 2020

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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/.

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Transcriptional heterogeneity of EBs derived from hPSCs with CNV gain at 20q11.21. (a) tSNE plot of 6590 cells, coloured by cluster (top) and the sample origin (bottom) for hFSiPS3 (control) and hFSiPS1 (case) lines. (b) Fraction of cells in each cluster for the hFSiPS3 and hFSiPS1 lines. Blue bars indicate the proportion of the number of cells in each cluster of hFSiPS3, and yellow bars indicate those of hFSiPS1. (c) Violin plots showing the expression distribution of selected genes that are detected in higher proportions in hFSiPS1 (left, case) and in hFSiPS3 (right, control). GO results for clusters 3, 5, 6, 7, and 9 are shown in (d), and those for clusters 1 and 8 are shown in (e). (f) tSNE plot for 5850 cells, coloured by cluster (top) and the sample origin (bottom) for hFmiPS2 at p22 (control) and hFmiPS2 at 30 (case) lines. (g) Fraction of cells in each cluster for hFmiPS2 at p22 and p30. Navy bars are indicated as the proportion of the number of cells in each cluster of hFmiPS2 at p22, and orange bars are indicated as those of hFmiPS2 at p30. (h) Violin plots showing the expression distribution of selected genes that are detected in higher proportion in hFmiPS2 at p30 (left, case) and in hFmiPS2 at p22 (right, control). The GO results for clusters 5 and 9 are shown in (i), and those for clusters 1 and 2 are shown in (j).