Generation of Marfan patient specific iPSCs (ICSSUi001-A) carrying a novel heterozygous mutation in FBN1 gene


Marfan syndrome (MFS) is an autosomal genetic disorder caused by mutation in FBN1 gene, encoding the extracellular matrix protein fibrillin-1. Here, a MFS patient specific iPSC carrying a novel heterozygous mutation (c.7897 T > G) in FBN1 gene was generated. This iPSC line exhibited normal morphology and karyotype, and could differentiate into three germ layers in vivo and in vitro. Thus, the established iPSC line provided a precise platform for elucidating the molecular pathogenesis and personalized drug screening of MFS. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Yu Y, Shen H, Zhu J, Cao X, Li Q, Shao L, Shen Z
Journal Stem cell research
Publication Date 2022 Apr;60:102720
PubMed 35231796
DOI 10.1016/j.scr.2022.102720

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