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

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

Stem Cell Research

10.1016/j.scr.2019.101527

http://dx.doi.org/10.1016/j.scr.2019.101527

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

07 August 2019

Kolundzic, N., Khurana, P., Devito, L., Jeriha, J., Marx, J., Hobbs, C., Wong, X. F. C. C., Common, J. E. A., Liovic, M., Dubrac, S., Gruber, R., Schmuth, M., Mauro, T. M., & Ilic, D. (2019). Induced pluripotent stem cell line heterozygous for p.R501X mutation in filaggrin: KCLi003-A. Stem Cell Research, 39, 101527. https://doi.org/10.1016/j.scr.2019.101527

We have generated an induced pluripotent stem cell (iPSC) line KCLi003-A (iOP101) from epidermal keratinocytes of a female donor, heterozygous for the loss-offunction mutation p.R501X in the filaggrin gene (FLG), using non-integrating Sendai virus vectors. Derivation and expansion of iPSCs were performed under xenofree 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.

Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)

This work was supported by The LEO Foundation, grant number (LF16028). S.D. was supported with a grant from the Austrian Science Fund (FWF-28039) and M.S. with the Walter Schaar Foundation grant (D-153300). J.E.A.C and X.F.C.C.W. are funded by BMRC-A*STAR-EDB (H17/01/a0/004).

https://oar.a-star.edu.sg/communities-collections/articles/20101

1873-5061

Skin Research Lab

https://doi.org/10.1016/j.scr.2019.101527