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

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

doi:10.1016/j.scr.2019.101462

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

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^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

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.

Original language	English
Article number	101462
Journal	Stem Cell Research
Volume	38
DOIs	https://doi.org/10.1016/j.scr.2019.101462
Publication status	Published - 1 Jul 2019

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Kolundzic, N., Khurana, P., Devito, L., Donne, M., Hobbs, C., Jeriha, J., Wong, X. F. C. C., Common, J. A. E., Lane, E. B., Dubrac, S., Gruber, R., Schmuth, M., Mauro, T. M., & Ilic, D. (2019). Induced pluripotent stem cell line heterozygous for p.R2447X mutation in filaggrin: KCLi002-A. Stem Cell Research, 38, Article 101462. https://doi.org/10.1016/j.scr.2019.101462

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

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.",

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

year = "2019",

month = jul,

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doi = "10.1016/j.scr.2019.101462",

language = "English",

volume = "38",

journal = "Stem Cell Research",

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T1 - Induced pluripotent stem cell line heterozygous for p.R2447X mutation in filaggrin

T2 - KCLi002-A

AU - Kolundzic, Nikola

AU - Khurana, Preeti

AU - Devito, Liani

AU - Donne, Matthew

AU - Hobbs, Carl

AU - Jeriha, Jakob

AU - Wong, Xuan Fei Colin Cornelius

AU - Common, John A.E.

AU - Lane, Ellen Birgitte

AU - Dubrac, Sandrine

AU - Gruber, Robert

AU - Schmuth, Matthias

AU - Mauro, Theodora M.

AU - Ilic, Dusko

PY - 2019/7/1

Y1 - 2019/7/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85065606757&partnerID=8YFLogxK

U2 - 10.1016/j.scr.2019.101462

DO - 10.1016/j.scr.2019.101462

M3 - Article

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SN - 1873-5061

VL - 38

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 101462

ER -

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

Abstract

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