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

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

doi:10.1016/j.scr.2019.101424

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

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

Women & Children's Health

Research output: Contribution to journal › Article › peer-review

8 Citations (Scopus)

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.

Original language	English
Article number	101424
Journal	Stem Cell Research
Volume	37
Early online date	27 Mar 2019
DOIs	https://doi.org/10.1016/j.scr.2019.101424
Publication status	E-pub ahead of print - 27 Mar 2019

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Kolundzic, N., Khurana, P., Hobbs, C., Rogar, M., Ropret, S., Törmä, H., Ilic, D., & Liovic, M. (2019). Induced pluripotent stem cell (iPSC) line from an epidermolysis bullosa simplex patient heterozygous for keratin 5 E475G mutation and with the Dowling Meara phenotype. Stem Cell Research, 37, Article 101424. Advance online publication. https://doi.org/10.1016/j.scr.2019.101424

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AU - Rogar, Marija

AU - Ropret, Sandra

AU - Törmä, Hans

AU - Ilic, Dusko

AU - Liovic, Mirjana

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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

Abstract

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