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.
Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA.
Stem Cell Res. 2024 Oct;80:103518. doi: 10.1016/j.scr.2024.103518. Epub 2024 Jul 29.
Marfan syndrome (MFS) is a hereditary condition caused by mutations in the FBN1 gene. Genetic mutations in the FBN1 locus impact the function of the encoded protein, Fibrillin 1, a structural molecule forming microfibrils found in the connective tissue. MFS patients develop severe cardiovascular complications including thoracic aortic aneurysm and aortic dissection, which predispose them to an enhanced risk of premature death. Here, we generated two induced pluripotent stem cell (iPSC) lines harboring mutations in the FBN1 gene (p.C1942C>A and c.1954 T>C), directly derived from MFS patients. We have shown that both iPSC lines displayed expression of pluripotency markers, normal karyotype and ability of trilineage differentiation, representing a valuable tool for the identification of new therapeutic strategies for intervening in this disease.
马凡综合征（MFS）是一种由 FBN1 基因突变引起的遗传性疾病。FBN1 基因座的遗传突变会影响编码蛋白原纤维蛋白 1 的功能，原纤维蛋白 1 是一种在结缔组织中发现的微纤维形成的结构分子。MFS 患者会出现严重的心血管并发症，包括胸主动脉瘤和主动脉夹层，这使他们面临早逝的高风险。在这里，我们直接从 MFS 患者中生成了两条携带 FBN1 基因突变（p.C1942C>A 和 c.1954T>C）的诱导多能干细胞（iPSC）系。我们已经证明，这两条 iPSC 系均显示出多能性标志物的表达、正常核型和三系分化的能力，这为鉴定干预这种疾病的新治疗策略提供了有价值的工具。
