Generation of genetically modified human induced pluripotent stem cell lines harboring haploin sufficient or dominant negative variants in the FBN1 gene

Stem Cell Res. 2021 Jul;54:102434. doi: 10.1016/j.scr.2021.102434. Epub 2021 Jun 17.

Abstract

Marfan Syndrome (MFS) is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene. To investigate the molecular mechanisms of pathogenesis for the syndrome, we genetically modified the FBN1 gene in a line of induced pluripotent stem cells (hiPSCs) derived from a healthy donor using the CRISPR/Cas9 gene editing technology. The sublines described here were characterized according to established criteria and were shown to maintain pluripotency, three germ layer differentiation potential and genomic integrity. These clones can now be used to better understand the pathogenesis of MFS in different cell types.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Differentiation
  • Fibrillin-1 / genetics
  • Humans
  • Induced Pluripotent Stem Cells*
  • Marfan Syndrome* / genetics
  • Mutation

Substances

  • FBN1 protein, human
  • Fibrillin-1