Generation of an induced pluripotent stem cell (iPSC) line of a Marfan syndrome patient with a pathogenic FBN1 c.5372G > A (p.Cys1791Tyr) variant
Summary
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. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Peeters S, Fedoryshchenko I, Rabaut L, Verstraeten A, Loeys BL |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Apr;68:103050 |
| PubMed | 36801568 |
| DOI | 10.1016/j.scr.2023.103050 |