Figure 3
From: Functional consequences of C-terminal mutations in RUNX2
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.
