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. 2019 May 23;7(7):e00755. doi: 10.1002/mgg3.755

Figure 1.

Figure 1

Generation and characterization of patient‐derived BOECs. (a) Pedigree of the CCM index case (III:2; arrow). (b) Sequence of the heterozygous frameshift variant c.2012delA in the CCM1 gene of III:2. (c) Schematic domain structure for CCM1 and localization of the pathogenic c.2012delA; p.(Asn671Thrfs*36) mutation in its FERM domain. ANK = ankyrin repeat domain; FERM = band Four.1 Ezrin Radixin Moesin; NPxY/F = Asn‐Pro‐X‐Tyr/Phe motif. (d) Brightfield and (e) spheroid sprouting of patient‐derived BOECs. Strong expression of CD31/PECAM‐1 (green) and very few cells expressing SM22α (red, *)(f, g) as well as immunopositivity for CD146 (green, h, i) and CD34 (green, j, k) in BOECs established from a healthy donor (f, h, j) and the index patient III:2 (g, i, k) confirmed their endothelial phenotype. Scale bars indicate 100 µm (f, g) or 400 µm (d, h‐k)