Shang Renjie, Sun Junyi, Flores Banuelos Amira G, Zhou Yang, Liang David H, Wu Joseph C
Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
Greenstone Biosciences, Palo Alto, CA 94304, USA.
Stem Cell Res. 2025 Mar;83:103663. doi: 10.1016/j.scr.2025.103663. Epub 2025 Jan 20.
Loeys-Dietz Syndrome (LDS) is a rare autosomal dominant connective tissue disorder characterized by vascular aneurysms, arterial dissections, and distinct craniofacial and skeletal anomalies. This study focuses on generating and characterizing two induced pluripotent stem cell (iPSC) lines derived from LDS patients with distinct mutations in the TGFBR1 gene. These two iPSC lines were found to display characteristic iPSC morphology, strong expression of pluripotency markers, typical karyotypes, and the capacity for differentiation into the three germ layers. These iPSC lines provide essential models for exploring the underlying mechanisms of LDS and hold significant potential for advancing personalized treatment approaches.
洛伊迪茨综合征（LDS）是一种罕见的常染色体显性遗传性结缔组织疾病，其特征为血管动脉瘤、动脉夹层以及独特的颅面和骨骼异常。本研究聚焦于生成并鉴定两条源自患有TGFBR1基因不同突变的LDS患者的诱导多能干细胞（iPSC）系。发现这两条iPSC系呈现出典型的iPSC形态、多能性标志物的强表达、典型的核型以及分化为三个胚层的能力。这些iPSC系为探索LDS的潜在机制提供了重要模型，并在推进个性化治疗方法方面具有巨大潜力。
