Baszucki Family Vascular Surgery Biobank, Stanford University School of Medicine, CA, USA; Stanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Division of Cardiovascular Medicine, Stanford University School of Medicine, CA, USA.
Baszucki Family Vascular Surgery Biobank, Stanford University School of Medicine, CA, USA; Stanford Cardiovascular Institute, Stanford University School of Medicine, CA, USA; Division of Vascular Surgery, Department of Surgery, Stanford University School of Medicine, CA, USA.
Stem Cell Res. 2024 Sep;79:103485. doi: 10.1016/j.scr.2024.103485. Epub 2024 Jun 25.
Vascular Ehlers-Danlos Syndrome (vEDS) is an inherited connective tissue disorder caused by COL3A1 gene, mutations that encodes type III collagen, a crucial component of blood vessels. vEDS can be life-threatening as these patients can have severe internal bleeding due to arterial rupture. Here, we generated induced pluripotent stem cell (iPSC) lines from two vEDS patients carrying a missense mutation in the COL3A1 (c.226A > G, p.Asn76Asp) gene. These lines exhibited typical iPSC characteristics including morphology, expression of pluripotency markers, and could differentiate to all three germ layer. These iPSC lines can serve as valuable tools for elucidating the pathophysiology underlying vEDS.
血管型埃勒斯-当洛斯综合征（vEDS）是一种遗传性结缔组织疾病，由 COL3A1 基因突变引起，该基因突变导致编码血管中重要成分 III 型胶原的蛋白异常。由于动脉破裂，这些患者可能会发生严重的内出血，因此 vEDS 可能危及生命。在这里，我们从两位携带 COL3A1 基因（c.226A>G，p.Asn76Asp）错义突变的 vEDS 患者中生成了诱导多能干细胞（iPSC）系。这些细胞系表现出典型的 iPSC 特征，包括形态、多能性标志物的表达，并能向三个胚层分化。这些 iPSC 系可以作为阐明 vEDS 发病机制的有价值的工具。
