Abstract：
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.
摘要：
血管Ehlers-Danlos综合征（vEDS）是由COL3A1基因引起的遗传性结缔组织疾病，编码III型胶原蛋白的突变，血管的重要组成部分。vEDS可能危及生命，因为这些患者可能因动脉破裂而严重内出血。这里,我们从两名在COL3A1中携带错义突变的vEDS患者中产生了诱导多能干细胞（iPSC）系（c.226A>G，p.Asn76Asp)基因。这些品系表现出典型的iPSC特征，包括形态学，多能性标记的表达，并且可以区分所有三个胚层。这些iPSC系可以作为阐明vEDS基础的病理生理学的有价值的工具。
