Generation of human induced pluripotent stem cell line UGENTi001-A from a patient with Marfan syndrome carrying a heterozygous c.7754 T > C variant in FBN1 and the isogenic control UGENT001-A-1 using CRISPR/Cas9 editing
Summary
Marfan syndrome is an autosomal dominant genetic disorder resulting from pathogenic variants in FBN1 gene. FBN1 encodes for fibrillin-1, an important extracellular matrix protein. Impaired fibrillin-1 affects multiple organ systems, including the cardiovascular system. We generated an iPSC line carrying a heterozygous variant c.7754 T > C (p.Ile2585Thr, missense) in FBN1 from a patient with Marfan syndrome. Also, an isogenic control is generated, where the pathogenic variant is repaired using CRISPR-Cas9. This isogenic pair provides a valuable resource for in vitro disease modelling. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Aalders J, Léger L, Demolder A, Muiño Mosquera L, Coucke P, Menten B, De Backer J, van Hengel J |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Mar;67:103036 |
| PubMed | 36724552 |
| DOI | 10.1016/j.scr.2023.103036 |