一名患有马凡综合征且携带FBN1基因c.7754T>C（p.Ile2585Thr）变异的患者所产生的诱导多能干细胞（iPSC）系（CMGANTi005-A）
A generated induced pluripotent stem cell (iPSC) line (CMGANTi005-A) of a Marfan syndrome patient with an FBN1 c.7754T > C (p.Ile2585Thr) variation.
作者信息
Van Den Heuvel Lotte J F, Peeters Silke, Meester Josephina A N, Perik Melanie, Coucke Paul, Loeys Bart L
机构信息
Center for Medical Genetics Antwerp, University of Antwerp, Antwerp University Hospital, Antwerp, Belgium; Center for Medical Genetics Ghent, University of Ghent, Ghent University Hospital, Ghent, Belgium.
Center for Medical Genetics Antwerp, University of Antwerp, Antwerp University Hospital, Antwerp, Belgium.
出版信息
Stem Cell Res. 2023 Mar;67:103032. doi: 10.1016/j.scr.2023.103032. Epub 2023 Jan 23.
Marfan syndrome (MFS) is a connective tissue disorder with pleiotropic manifestations in the ocular, skeletal and cardiovascular system; and is typically cause by pathogenic variants in the fibrillin-1 (FBN1) gene. We report a generated induced pluripotent cell (iPSC) line of a MFS patient with an FBN1 c.7754T > C (p.Ile2585Thr) variant. The cell line was generated from peripheral blood mononuclear cells (PBMCs) and after reprogramming the line showed a no relevant copy number alterations, expression of pluripotency markers and was able to differentiate into three germ layers while carrying the original genotype.
马凡综合征（MFS）是一种结缔组织疾病，在眼、骨骼和心血管系统中具有多效性表现；通常由原纤维蛋白-1（FBN1）基因的致病变异引起。我们报告了一例携带FBN1基因c.7754T>C（p.Ile2585Thr）变异的马凡综合征患者的诱导多能干细胞（iPSC）系。该细胞系由外周血单个核细胞（PBMC）生成，重编程后该细胞系未显示相关拷贝数改变，表达多能性标志物，并且在携带原始基因型的情况下能够分化为三个胚层。
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