Cardiogenomics, Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
Laboratory of Experimental Hematology, Vaccine and Infectious Disease Institute, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
Stem Cell Res. 2022 Oct;64:102932. doi: 10.1016/j.scr.2022.102932. Epub 2022 Oct 4.
Loeys-Dietz Syndrome (LDS) is an autosomal dominant connective tissue disorder. The major hallmark of LDS is thoracic aortic aneurysm and dissection (TAAD). We generated an induced pluripotent stem cell (iPSC) line of a severely affected LDS patient carrying a pathogenic SMAD3 p.Arg287Gln variant. Peripheral blood mononuclear cells were reprogrammed using non-integrating Sendai viral vectors. The autonomous pluripotency state of the resulting iPSC model was proven by the presence of pluripotency markers, trilineage differentiation potential and absence of the Sendai vector backbone. This iPSC line can be used to study and/or therapeutically target the cellular pathomechanisms of SMAD3-related LDS.
洛伊氏迪茨综合征（LDS）是一种常染色体显性结缔组织疾病。LDS 的主要特征是胸主动脉瘤和夹层（TAAD）。我们构建了一位严重 LDS 患者的诱导多能干细胞（iPSC）系，该患者携带致病性 SMAD3 p.Arg287Gln 变异体。外周血单核细胞使用非整合性仙台病毒载体进行重编程。所得 iPSC 模型的自主多能性状态通过存在多能性标志物、三系分化潜能和不存在仙台病毒载体骨架得到证明。该 iPSC 系可用于研究和/或针对 SMAD3 相关 LDS 的细胞发病机制进行治疗。
