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

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^*

^*Corresponding author for this work

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

5 Citations (Scopus)

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.

Original language	English
Article number	101527
Journal	Stem Cell Research
Volume	39
DOIs	https://doi.org/10.1016/j.scr.2019.101527
Publication status	Published - 7 Aug 2019

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

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.",

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

year = "2019",

month = aug,

day = "7",

doi = "10.1016/j.scr.2019.101527",

language = "English",

volume = "39",

journal = "Stem Cell Research",

issn = "1873-5061",

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TY - JOUR

T1 - Induced pluripotent stem cell line heterozygous for p.R501X mutation in filaggrin

T2 - KCLi003-A

AU - Kolundzic, Nikola

AU - Khurana, Preeti

AU - Devito, Liani

AU - Jeriha, Jakob

AU - Marx, Jennifer

AU - Hobbs, Carl

AU - Wong, Xuan Fei Colin Cornelius

AU - Common, John E.A.

AU - Liovic, Mirjana

AU - Dubrac, Sandrine

AU - Gruber, Robert

AU - Schmuth, Matthias

AU - Mauro, Theodora M.

AU - Ilic, Dusko

PY - 2019/8/7

Y1 - 2019/8/7

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85070275257&partnerID=8YFLogxK

U2 - 10.1016/j.scr.2019.101527

DO - 10.1016/j.scr.2019.101527

M3 - Article

AN - SCOPUS:85070275257

SN - 1873-5061

VL - 39

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 101527

ER -

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

Abstract

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