Generation of an induced pluripotent stem cell line from a patient carrying FBN1/c.6734 G > A mutation

Stem Cell Res. 2021 Aug:55:102459. doi: 10.1016/j.scr.2021.102459. Epub 2021 Jul 14.

Abstract

Mutations in FBN1 (gene encodes the matrix protein fibrillin 1), are usually associated with Marfan syndrome (MS). This syndrome contains ocular, skeletal, cardiovascular, pulmonary, cutaneous and neurological abnormalities. Here, we introduced an induced pluripotent stem cell (iPSC) line from a patient who suffered from severe cardiovascular disease and carried a c.6734G > A mutation in FBN1. Dermal fibroblasts of the patient were reprogrammed with non-integrating Sendai virus (SeV). Generated iPSC line exhibited normal karyotype, showed embryonic stem cell-like morphology, expressed pluripotency markers, and was capable of differentiating into three germ layers. This iPSC line will be a valuable tool for studying MS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Fibrillin-1 / genetics
  • Humans
  • Induced Pluripotent Stem Cells*
  • Marfan Syndrome* / genetics
  • Mutation
  • Sendai virus / genetics

Substances

  • FBN1 protein, human
  • Fibrillin-1