生成一位马凡综合征患者的诱导多能干细胞 (iPSC) 系，该患者携带致病性 FBN1 c.5372G > A (p.Cys1791Tyr) 变异。
Generation of an induced pluripotent stem cell (iPSC) line of a Marfan syndrome patient with a pathogenic FBN1 c.5372G > A (p.Cys1791Tyr) variant.
机构信息
Center for Medical Genetics Antwerp, University of Antwerp, Antwerp University Hospital, Antwerp, Belgium.
Center for Medical Genetics Antwerp, University of Antwerp, Antwerp University Hospital, Antwerp, Belgium; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
出版信息
Stem Cell Res. 2023 Apr;68:103050. doi: 10.1016/j.scr.2023.103050. Epub 2023 Feb 15.
Marfan syndrome (MFS) is a connective tissue disorder with pleiotropic manifestations in the ocular, skeletal and cardiovascular system. Ruptured aortic aneurysms in MFS patients are associated with high mortality rates. MFS is typically caused by pathogenic variants in the fibrillin-1 (FBN1) gene. Here, we report a generated induced pluripotent cell (iPSC) line of a MFS patient with a FBN1 c.5372G > A (p.Cys1791Tyr) variant. For that, skin fibroblasts of a MFS patient carrying a FBN1 c.5372G > A (p.Cys1791Tyr) variant were successfully reprogrammed into iPSCs using the CytoTune™-iPS 2.0 Sendai Kit (Invitrogen). The iPSCs showed a normal karyotype, expressed pluripotency markers, were able to differentiate into three germ layers and carried the original genotype.
马凡综合征（MFS）是一种结缔组织疾病，在眼部、骨骼和心血管系统有多种表现。MFS 患者的主动脉瘤破裂与高死亡率相关。MFS 通常由原纤维蛋白 1（FBN1）基因的致病性变异引起。在这里，我们报告了一位 MFS 患者的诱导多能干细胞（iPSC）系，该患者携带 FBN1 c.5372G > A（p.Cys1791Tyr）变异。为此，我们使用 CytoTune™-iPS 2.0 Sendai Kit（Invitrogen）成功将携带 FBN1 c.5372G > A（p.Cys1791Tyr）变异的 MFS 患者的皮肤成纤维细胞重编程为 iPSC。iPSC 具有正常的核型，表达多能性标记物，能够分化为三个胚层，并携带原始基因型。
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