Stem Cell Research (Aug 2019)

Induced pluripotent stem cell line heterozygous for p.R501X mutation in filaggrin: KCLi003-A

  • Nikola Kolundzic,
  • Preeti Khurana,
  • Liani Devito,
  • Jakob Jeriha,
  • Jennifer Marx,
  • Carl Hobbs,
  • Xuan Fei Colin Cornelius Wong,
  • John E.A. Common,
  • Mirjana Liovic,
  • Sandrine Dubrac,
  • Robert Gruber,
  • Matthias Schmuth,
  • Theodora M. Mauro,
  • Dusko Ilic

Journal volume & issue
Vol. 39

Abstract

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We have generated an induced pluripotent stem cell (iPSC) line KCLi003-A (iOP101) from epidermal keratinocytes of a female donor, heterozygous for the loss-of-function mutation p.R501X in the filaggrin gene (FLG), using non-integrating Sendai virus vectors. Derivation and expansion of iPSCs were performed under xeno-free culture conditions. Characterization and validation of KCLi003-A line included molecular karyotyping, mutation screening using restriction enzyme digestion, next generation sequencing (NGS), while pluripotency and differentiation potential were confirmed by expression of associated markers in vitro and by in vivo teratoma assay.