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. 2021 Nov 9;12:6469. doi: 10.1038/s41467-021-26810-x

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© The Author(s) 2021

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. 1 — a Study system: iPSCs were derived from skin fibroblasts of two unrelated Coffin-Siris patients. The iPSCs were used in this study to generate Cranial Neural Crest Cells (CNCCs) and perform genomic experiments to investigate the effect of ARID1B mutations. Panel created by LP. b Graphical illustration of the ARID1B-haploinsufficient mutations affecting the two studied patients. The numbers in the gene model refer to ARID1B’s isoform NM_020732.3. c iPSC colony derived from Patient 19. d, e Immunofluorescence and rt-qPCR quantifying the expression of the key pluripotency markers in iPSCs derived from Control and Patient lines. P values are from two-sided Student’s t test. N = 3 biologically independent samples. Error bars display standard errors. f Growth curve comparing an ARID1B-wt iPSC Line (CTRL-1) with the two patient lines. P values from two-sided Student’s t test are >0.05 (not significant) in all comparisons. N = 3 biologically independent experiments. Error bars display standard errors.