Induced pluripotent stem cell (iPSC) line MLi-004A derived from a patient with recessive dystrophic epidermolysis bullosa (RDEB)

Stem Cell Res. 2021 Aug:55:102463. doi: 10.1016/j.scr.2021.102463. Epub 2021 Jul 13.

Abstract

We have generated MLi004-A, a new induced pluripotent stem cell (iPSC) line derived from skin fibroblasts of a female patient with recessive dystrophic epidermolysis bullosa (RDEB). This iPSC line may be used as a model system for studies on skin integrity, the extracellular matrix and skin barrier function. The characterization of the MLi004-A cell line consisted of molecular karyotyping, next-generation sequencing of the COL7A1 alleles, pluripotency and differentiation potentials testing by immunofluorescence of associated markers in vitro. The MLi-004A line has been also tested for ability to differentiate into fibroblasts.

Keywords: Collagen VII; Fibroblast; Keratinocyte; Pluripotency; Recessive dystrophic EB; iPSC line.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Collagen Type VII / genetics
  • Epidermolysis Bullosa Dystrophica* / genetics
  • Female
  • Fibroblasts
  • Humans
  • Induced Pluripotent Stem Cells*
  • Mutation
  • Skin

Substances

  • COL7A1 protein, human
  • Collagen Type VII