Aalders Jeffrey, Léger Laurens, Demolder Anthony, Muiño Mosquera Laura, Coucke Paul, Menten Björn, De Backer Julie, van Hengel Jolanda
Medical Cell Biology Research Group, Department of Human Structure and Repair, Faculty of Medicine and Health Sciences, Ghent University, Corneel Heymanslaan 10, Building B, Entrance 36, 9000 Ghent, Belgium.
Center for Medical Genetics, Ghent University Hospital, Belgium and Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, 9000 Ghent, Belgium.
Stem Cell Res. 2023 Mar;67:103036. doi: 10.1016/j.scr.2023.103036. Epub 2023 Jan 25.
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.
马凡综合征是一种常染色体显性遗传病，由FBN1基因的致病变异引起。FBN1编码原纤维蛋白-1，这是一种重要的细胞外基质蛋白。原纤维蛋白-1受损会影响多个器官系统，包括心血管系统。我们从一名马凡综合征患者中生成了一条携带FBN1基因杂合变异c.7754 T>C（p.Ile2585Thr，错义突变）的诱导多能干细胞系。此外，还生成了一个等基因对照，其中使用CRISPR-Cas9修复了致病变异。这一等基因对为体外疾病建模提供了宝贵资源。
