Generation of a human induced pluripotent stem cell line (NCCDFWi001-A) from a Marfan syndrome patient carrying two FBN1 variants (c.2613A > C and c.684_736 + 4del)

Stem Cell Res. 2020 Jan:42:101690. doi: 10.1016/j.scr.2019.101690. Epub 2019 Dec 18.

Abstract

The human induced pluripotent stem cell line NCCDFWi001-A was derived from peripheral blood mononuclear cells (PBMC) of a 26-year-old female Marfan syndrome patient carrying two compound heterozygous variants FBN1c.2613A > C, (p.Leu871Phe) and c.684_736 + 4del. The established patient-derived iPSC showed expression of pluripotent stem cell markers and had the ability to differentiate into all of the three germ layers and possessed a normal karyotype.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Animals
  • Cell Line
  • Female
  • Fibrillin-1 / genetics*
  • Humans
  • Induced Pluripotent Stem Cells / metabolism*
  • Marfan Syndrome / genetics*
  • Mutation

Substances

  • FBN1 protein, human
  • Fibrillin-1