Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder characterized by a genetic predisposition for thoracic aortic aneurysm and dissection. Despite heterozygous loss-of-function mutations in genes for ligand, receptor, or downstream mediators of the transforming growth factor β (TGFβ) pathway, LDS is associated with a signature of high TGFβ signaling. We generated induced pluripotent stem cell (iPSC) lines from three adult LDS-patients (two male, one female) of a family with a heterozygous point mutation in exon 4 of the TGFβ-receptor1 (TGFBR1) gene (p.M253I; c.759G>A). The lines offer a valuable resource for modeling the pathophysiology of genetically mediated aortic disease.

Loeys-Dietz综合征（LDS）是一种罕见的结缔组织疾病，其特征是胸主动脉瘤和解剖的遗传易感性。尽管在转化生长因子β（TGFβ）途径的配体，受体或下游介体的基因中杂合了功能丧失突变，但LDS与高TGFβ信号转导相关。我们从TGFβ-receptor1（TGFBR1）基因第4外显子杂合点突变的三名成年LDS患者（两名男性，一名女性）的家庭中产生了诱导多能干细胞（iPSC）系（p.M253I; c。 759G> A）。这些系为建模遗传介导的主动脉疾病的病理生理学提供了宝贵的资源。