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