Generation of an integration-free induced pluripotent stem cell line, FJMAi001-A, from a Marfan syndrome patient with a heterozygous mutation c.2777G > A (p.Cys926Tyr) in FBN1
Summary
Marfan syndrome (MFS) is a heritable dominant disorder of fibrous connective tissue, caused by mutations in the gene encoding fibrillin-1 on chromosome 15. Here, we report an induced pluripotent stem cell (iPSC) line generated from a patient with MFS who carries a heterozygous mutation of c.2777G > A(p.Cys926Tyr) in the FBN1 gene using an episomal method. The hiPS-MFS cell line has normal karyotype, expresses pluripotency markers, and has the ability to form three germ layers in vivo.This MFS-specific iPSC line can be used as a cell disease model to study the pathogenesis of Marfan syndrome. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Liu R, Weng G, Zheng F, Chen J, Wang K, Han J, Huang J, Yan L, Jin J |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Dec;81:103591 |
| PubMed | 39515109 |
| DOI | 10.1016/j.scr.2024.103591 |