Author/Editor		Kolundzic, Nikola; Khurana, Preeti; Hobbs, Carl; Rogar, Marija; Ropret, Sandra; Törmä, Hans; Ilic, Dusko; Liović, Mirjana
Title		Induced pluripotent stem cell (iPSC) line from an epidermolysis bullosa simplex patient heterozygous for keratin 5 E475G mutation and with the Dowling Meara phenotype
Type		članek
Vol. and No.		, št. Vol. 37
Publication year		2019
Volume		str. 1-5
ISSN		1876-7753 - Stem cell research
Language		eng
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.
Keywords		matične celice epidermoliza keratin stem cell epidermolysis keratin