Generation of a human iPSC line QDMHi001-A from a patient with Marfan syndrome carrying a heterozygous c.6772 T > C variant in FBN1
Summary
Variants in FBN1 are associated with Marfan Syndrome, an autosomal dominant disorder with clinical features that involve the musculoskeletal, cardiovascular and ocular systems. We generated a human iPSC line QDMHi001-A from a patient with Marfan syndrome and a heterozygous c.6772 T > C (p.Cys2258Arg) variant in FBN1. This line will be a valuable resource for in vitro disease modeling and drug testing for Marfan syndrome. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Wu S, Zhang Z, Wang L, Yu J |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 Jul;54:102390 |
| PubMed | 34087733 |
| DOI | 10.1016/j.scr.2021.102390 |