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Stem Cell Res. 2019 Mar 27;37:101424. doi: 10.1016/j.scr.2019.101424. [Epub ahead of print]

Induced pluripotent stem cell (iPSC) line from an epidermolysis bullosa simplex patient heterozygous for keratin 5 E475G mutation and with the Dowling Meara phenotype.

Author information

1
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.
2
Histology Laboratory, Wolfson Centre for Age-Related Diseases, School of Biomedical Sciences, King's College London, London, UK.
3
Medical Center for Molecular Biology, Faculty of Medicine, University of Ljubljana, Slovenia; AdriaBio doo, Postojna, Slovenia.
4
Medical Center for Molecular Biology, Faculty of Medicine, University of Ljubljana, Slovenia.
5
Dermatology, Department of Medical Sciences, Uppsala University, Uppsala, Sweden.
6
Medical Center for Molecular Biology, Faculty of Medicine, University of Ljubljana, Slovenia. Electronic address: mirjana.liovic@mf.uni-lj.si.

Abstract

We have generated MLi002-A, a new induced pluripotent stem cell (iPSC) line derived from keratinocytes of a skin punch biopsy of a female patient with the severe epidermolysis bullosa simplex Dowling-Meara phenotype and the keratin K5 E475G mutation. Keratinocytes were reprogrammed using non-integrating Sendai virus vectors, and xeno-free culture conditions were used throughout. The characterization of MLi002-A cell line consisted of molecular karyotyping, mutation screening using restriction enzyme digestion and Sanger sequencing, and testing of the pluripotency and differentiation potentials by immunofluorescence of associated markers both in vitro and in vivo. This is the first iPSC model of EB Simplex.

PMID:
30933721
DOI:
10.1016/j.scr.2019.101424
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