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. Author manuscript; available in PMC: 2022 Oct 5.
Published in final edited form as: Circulation. 2021 Aug 4;144(14):1145–1159. doi: 10.1161/CIRCULATIONAHA.121.054744

Figure 1. A novel LDS mutation and Lineage-Specific hiPSC Disease Modeling.

Figure 1.

A) A four-generation pedigree highlighting the family members diagnosed with LDS (filled symbol) or aortic dissection (AD). All LDS patients (+ symbol) underwent targeted gene sequencing, revealing that they carry the autosomal dominant TGFBR1A230T(c.G688A) variant (TGFBR1A230T/+). Slash symbol: not alive. B) Three-dimensional reconstruction of aortic root from Patients III-1 and IV-1. C) PDB structure of TGFBR1 protein (colored in green) in complex with ATP (spheres). The mutated residue is shown in magenta. In the mutant structure, the docked ATP is far away from residue 230. D) The Sanger sequencing results showing the position of the knock-in mutation, and the corrected base in the patient-derived hiPSC (red rectangle). E) Diagram summarizing the lineage-specific differentiation of hiPSC to CPC-SMC and NCSC-SMC.