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Induced pluripotent stem cell line heterozygous for p.R2447X mutation in filaggrin: KCLi002-A

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Nikola Kolundzic, Preeti Khurana, Liani Devito, Matthew Donne, Carl Hobbs, Jakob Jeriha, Xuan Fei Colin Cornelius Wong, John A.E. Common, Ellen Birgitte Lane, Sandrine Dubrac, Robert Gruber, Matthias Schmuth, Theodora M. Mauro, Dusko Ilic

Original languageEnglish
Article number101462
JournalStem Cell Research
Volume38
DOIs
Publication statusPublished - 1 Jul 2019

King's Authors

Abstract

We have generated an induced pluripotent stem cell (iPSC) line KCLi002-A (iOP107) from a female donor, heterozygous for the loss-of-function mutation p.R2447X in the filaggrin gene (FLG). Epidermal keratinocytes were reprogrammed using non-integrating Sendai virus vectors. The entire process of derivation and expansion of iPSCs were performed under xeno-free culture conditions. Characterization of KCLi002-A line included molecular karyotyping, mutation screening using restriction enzyme digestion Sanger sequencing and next generation sequencing (NGS), whereas pluripotency and differentiation potential were confirmed by expression of associated markers in vitro and in vivo teratoma assay.

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