Generation of a human iPSC line from a patient with Marfan syndrome caused by mutation in FBN1


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

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