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. 2023 Jul 27;13:12202. doi: 10.1038/s41598-023-39293-1

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© The Author(s) 2023

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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Characterisitcs of aBMSCs with p.Ser247Valfs*3 mutation. (A,B) Chromatograms illustrate the heterozygous missense mutation, c.739delA (p.Ser247Valfs*3) in the RUNX2 gene (NM_001024630.4) in the CCD cells obtained from a patient affected with CCD. The mutation was absent in control cells. (C,D) Subcellular localization of CCD and control cells. (E-L) The expression of RUNX2, OCN, COL1A1, and ALP mRNA in CCD and control cells cultured in general medium (GM) or osteogenic medium (OM). (M,N) Alizarin red S staining of CCD and control cells culture in OM.