Baszucki Family Vascular Surgery Biobank, Stanford University School of Medicine, CA, USA; Division of Vascular Surgery, Department of Surgery, 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.
Stem Cell Res. 2024 Mar;75:103285. doi: 10.1016/j.scr.2023.103285. Epub 2023 Dec 19.
Arterial calcification due to deficiency of CD73 (ACDC) is an adult onset, rare genetic vascular disorder signified by calcium deposition in lower extremity arteries and joints of hands and feet. Mutations in NT5E gene has been shown to be responsible for the inactivation of enzyme CD73 causing calcium buildup. Here, we report a iPSC line generated from a patient showing signs of ACDC and carrying a missense mutation in NT5E (c.1126A→G,p.T376A) gene. This iPSC line shows normal morphology, pluripotency, karyotype, and capability to differentiate into three germ layers, making it useful for disease modeling and investigating pathological mechanisms of ACDC.
由于 CD73 缺乏导致的动脉钙化(ACDC)是一种成人发病的罕见遗传性血管疾病,其特征是下肢动脉和手足关节钙沉积。已经表明 NT5E 基因突变会导致酶 CD73 失活,从而导致钙积累。在这里,我们报告了一个源自表现出 ACDC 迹象的患者的 iPSC 系,该患者携带 NT5E(c.1126A→G,p.T376A)基因的错义突变。该 iPSC 系表现出正常的形态、多能性、核型以及分化为三个胚层的能力,使其可用于疾病建模和研究 ACDC 的病理机制。