A Marfan syndrome human induced pluripotent stem cell line with a heterozygous FBN1 c.4082G>A mutation, ISMMSi002-B, for disease modeling
Summary
Fibroblasts of a 28-year-old female with Marfan syndrome (MFS) due to a heterozygous FBN1 c.4082G>A mutation were reprogrammed using the Sendai virus delivery method. The established human induced pluripotent stem cell (hiPSC) line named ISMMSi002-B expresses pluripotency markers, has a normal karyotype, carries the specific FBN1 mutation and is able to differentiate into three germ layers in vitro. ISMMSi002-B has utility in studying MFS pathogenesis, including skeletal abnormalities, cardiomyopathy, and vascular smooth muscle cell dysfunction associated with aortic aneurysm. Furthermore, it can serve as a platform for drug discovery. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Klein S, Dvornik JL, Yarrabothula AR, Schaniel C |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2017 Aug;23:73-76 |
| PubMed | 28925368 |
| DOI | 10.1016/j.scr.2017.06.016 |