Höpperger Sabrina, Spathopoulou Angeliki, Mayer-Suess Lukas, Suarez-Cubero Marta, Sillaber Katharina, Spreiz Ana, Kiechl Stefan, Edenhofer Frank, Fellner Lisa
Department of Genomics, Stem Cell Biology and Regenerative Medicine, Institute of Molecular Biology & CMBI, University of Innsbruck, Innsbruck, Austria.
Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
Stem Cell Res. 2024 Mar;75:103321. doi: 10.1016/j.scr.2024.103321. Epub 2024 Jan 26.
Ehlers-Danlos syndrome (EDS) belongs to a spectrum of rare heritable connective tissue disorders and is characterised by hyperextensibility, joint hypermobility and tissue fragility. Peripheral blood mononuclear cells (PBMCs) from a vascular EDS (vEDS) patient, known as the rarest EDS subtype, carrying a heterozygous nonsense mutation c.430C > T (p.Q105*) in the COL3A1 gene, which is essential for type III collagen synthesis, were reprogrammed into induced pluripotent stem cells (iPSCs). The generated iPSCs exhibit high expression of pluripotency-associated markers, possess trilineage differentiation capacity and reveal a normal karyotype. This novel patient-specific cell line enables in-depth pathophysiological studies of vEDS.
埃勒斯-当洛综合征（EDS）属于一系列罕见的遗传性结缔组织疾病，其特征为皮肤过度伸展、关节活动过度和组织脆弱。血管型EDS（vEDS）是EDS最罕见的亚型，一名携带COL3A1基因杂合无义突变c.430C>T（p.Q105*）的vEDS患者的外周血单个核细胞（PBMC）被重编程为诱导多能干细胞（iPSC），COL3A1基因对III型胶原蛋白的合成至关重要。所产生的iPSC表现出多能性相关标志物的高表达，具有三系分化能力，且核型正常。这种新型的患者特异性细胞系有助于对vEDS进行深入的病理生理学研究。
