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

Sandra Ropret; Jakob Jeriha; Tjaša Sorčan; Marija Rogar; Špela Zemljič Jokhadar; John A McGrath; Dusko Ilic; Mirjana Liovic

doi:10.1016/j.scr.2021.102463

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.

Authors

Sandra Ropret¹, Jakob Jeriha², Tjaša Sorčan¹, Marija Rogar³, Špela Zemljič Jokhadar⁴, John A McGrath⁵, Dusko Ilic², Mirjana Liovic⁶

Affiliations

¹ Medical Center for Molecular Biology, Faculty of Medicine, University of Ljubljana, Slovenia.
² Stem Cell Lab, Department of Women and Children's Health, School of Life Course Sciences, Faculty of Life Sciences and Medicine, King's College London and Assisted Conception Unit, Guy's Hospital, London, UK.
³ Medical Center for Molecular Biology, Faculty of Medicine, University of Ljubljana, Slovenia; AdriaBio doo, Postojna, Slovenia.
⁴ Institute of Biophysics, Faculty of Medicine, University of Ljubljana, Slovenia.
⁵ Genetic Skin Disease Group, St John's Institute of Dermatology, Guy's Hospital, London, UK.
⁶ Medical Center for Molecular Biology, Faculty of Medicine, University of Ljubljana, Slovenia. Electronic address: mirjana.liovic@mf.uni-lj.si.

PMID: 34284275
DOI: 10.1016/j.scr.2021.102463

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