Induced pluripotent stem cell line from an atopic dermatitis patient heterozygous for c.2282del4 mutation in filaggrin: KCLi001-A

Stem Cell Res. 2018 Aug:31:122-126. doi: 10.1016/j.scr.2018.07.014. Epub 2018 Jul 25.

Abstract

We have generated an induced pluripotent stem cell (iPSC) line KCLi001-A (iOP118) from a female atopic dermatitis (AD) patient, heterozygous for the loss-of-function mutation c.2282del4 in the filaggrin gene (FLG). Epidermal keratinocytes were reprogrammed using non-integrating Sendai virus vectors. The entire process of derivation and expansion of AD-iPSCs were performed under xeno-free culture conditions. Characterization of KCLi001-A line included molecular karyotyping, mutation screening using restriction enzyme digestion and Sanger sequencing, while pluripotency and differentiation potential were confirmed by expression of associated markers in vitro and by in vivo teratoma assay.

Publication types

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

MeSH terms

  • Dermatitis, Atopic / genetics*
  • Dermatitis, Atopic / pathology
  • Female
  • Filaggrin Proteins
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells / metabolism*
  • Intermediate Filament Proteins / metabolism*
  • Mutation

Substances

  • FLG protein, human
  • Filaggrin Proteins
  • Intermediate Filament Proteins