Generation of a human iPSC line from a patient with Marfan syndrome caused by mutation in FBN1
Summary
Marfan syndrome (MFS) is a heritable connective tissue disease caused by mutations in FBN1, encoding the extracellular matrix protein fibrillin-1. In this study, we generated human induced pluripotent stem cells (iPSCs) from dermal fibroblasts of an MFS patient with the p. E2130K (c. 6388G > A) mutation. The generated hiPSC line had a normal karyotype, showed robust expression of pluripotency markers and was able to differentiate into all three germ layers in vivo. This cell line can provide a platform for understanding the pathogenic mechanisms of MFS related to FBN1 mutations. Resource table. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Li X, Dong T, Li Y, Wu F, Lan F |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2019 Apr;36:101414 |
| PubMed | 30870686 |
| DOI | 10.1016/j.scr.2019.101414 |