A Marfan syndrome human induced pluripotent stem cell line with a heterozygous FBN1 c.4082G & gt;A mutation, ISMMSi002-B, for disease modeling

Publication date: August 2017 Source:Stem Cell Research, Volume 23 Author(s): Sandra Klein, Jill L. Dvornik, Akshitha R. Yarrabothula, Christoph Schaniel 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.
Source: Stem Cell Research - Category: Stem Cells Source Type: research