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

doi:10.1016/j.scr.2019.101527

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

Stem Cell Res. 2019 Aug:39:101527. doi: 10.1016/j.scr.2019.101527. Epub 2019 Aug 7.

Authors

Affiliations

¹ Stem Cell Laboratory, Department of Women and Children's Health, School of Life Course Sciences, Faculty of Life Sciences and Medicine, King's College London, London, UK; Assisted Conception Unit, Guy's Hospital, London, UK.
² Stem Cell Laboratory, Department of Women and Children's Health, School of Life Course Sciences, Faculty of Life Sciences and Medicine, King's College London, London, UK; Department of Biology, Biotechnical Faculty, University of Ljubljana, Ljubljana, Slovenia.
³ Stem Cell Laboratory, Department of Women and Children's Health, School of Life Course Sciences, Faculty of Life Sciences and Medicine, King's College London, London, UK.
⁴ Histology Laboratory, Wolfson Centre for Age-Related Diseases, School of Biomedical Sciences, King's College London, London, UK.
⁵ Skin Research Institute of Singapore, A*STAR, Singapore, Singapore.
⁶ Medical Center for Molecular Biology, Faculty of Medicine, University of Ljubljana, Slovenia.
⁷ Department of Dermatology, Venereology and Allergology, Medical University of Innsbruck, Innsbruck, Austria.
⁸ Dermatology Services, Veteran Affairs Medical Center, University of California San Francisco, San Francisco, CA, USA.
⁹ Stem Cell Laboratory, Department of Women and Children's Health, School of Life Course Sciences, Faculty of Life Sciences and Medicine, King's College London, London, UK; Assisted Conception Unit, Guy's Hospital, London, UK. Electronic address: dusko.ilic@kcl.ac.uk.

PMID: 31408836
DOI: 10.1016/j.scr.2019.101527

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Differentiation / genetics
Cell Differentiation / physiology
Cellular Reprogramming / genetics
Cellular Reprogramming / physiology
Filaggrin Proteins
Fluorescent Antibody Technique
Heterozygote
Humans
Induced Pluripotent Stem Cells / metabolism*
Intermediate Filament Proteins / genetics*
Microsatellite Repeats / genetics
Mycoplasma / metabolism
Reverse Transcriptase Polymerase Chain Reaction
Sendai virus / genetics

Substances

FLG protein, human
Filaggrin Proteins
Intermediate Filament Proteins