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

Research output: Contribution to journalArticle

Nikola Kolundzic, Preeti Khurana, Carl Hobbs, Marija Rogar, Sandra Ropret, Hans Törmä, Dusko Ilic, Mirjana Liovic

Original languageEnglish
Article number101424
JournalStem Cell Research
Volume37
Early online date27 Mar 2019
DOIs
Accepted/In press18 Mar 2019
E-pub ahead of print27 Mar 2019

King's Authors

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.

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