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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
Kings Coll London, Fac Life Sci & Med, Sch Life Course Sci, Stem Cell Lab,Dept Women & Childrens Hlth, London, England;Guys Hosp, Assisted Concept Unit, London, England.
Kings Coll London, Fac Life Sci & Med, Sch Life Course Sci, Stem Cell Lab,Dept Women & Childrens Hlth, London, England;Guys Hosp, Assisted Concept Unit, London, England.
Kings Coll London, Wolfson Ctr Age Related Dis, Sch Biomed Sci, Histol Lab, London, England.
Univ Ljubljana, Fac Med, Med Ctr Mol Biol, Ljubljana, Slovenia;AdriaBio Doo, Postojna, Slovenia.
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2019 (English)In: Stem Cell Research, ISSN 1873-5061, E-ISSN 1876-7753, Vol. 37, article id 101424Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
ELSEVIER SCIENCE BV , 2019. Vol. 37, article id 101424
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Cell and Molecular Biology
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URN: urn:nbn:se:uu:diva-390542DOI: 10.1016/j.scr.2019.101424ISI: 000472548200005PubMedID: 30933721OAI: oai:DiVA.org:uu-390542DiVA, id: diva2:1341909
Available from: 2019-08-12 Created: 2019-08-12 Last updated: 2019-08-12Bibliographically approved

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