Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS)

Bernd Kuebler; Begoña Aran; Laia Miquel-Serra; Yolanda Muñoz; Elisabet Ars; Gemma Bullich; Monica Furlano; Roser Torra; Merce Marti; Anna Veiga; Angel Raya

doi:10.1016/j.scr.2017.08.021

Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS)

Bernd Kuebler, Begoña Aran, Laia Miquel-Serra, Yolanda Muñoz, Elisabet Ars, Gemma Bullich, Monica Furlano, Roser Torra, Merce Marti, Anna Veiga, Angel Raya

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

4 Citations (Scopus)

Abstract

© 2017 The Author(s) A skin biopsy was obtained from a 25-year-old female patient with autosomal recessive Alport syndrome (ARAS) with the homozygous COL4A3 mutation c.345delG, p.(P166Lfs*37). Dermal fibroblasts were derived and reprogrammed by nucleofection with episomal plasmids carrying OCT3/4, SOX2, KLF4 LIN28, L-MYC and p53shRNA. The generated induced Pluripotent Stem Cell (iPSC) clone AS FiPS1 Ep6F-2 was free of genomically integrated reprogramming genes, had the specific homozygous mutation, a stable karyotype, expressed pluripotency markers and generated embryoid bodies which were differentiated towards the three germ layers in vitro. This iPSC line offers a useful resource to study Alport syndrome pathomechanisms and drug testing.

Original language	English
Pages (from-to)	1-5
Journal	Stem Cell Research
Volume	25
DOIs	https://doi.org/10.1016/j.scr.2017.08.021
Publication status	Published - 1 Dec 2017

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10.1016/j.scr.2017.08.021

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title = "Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS)",

abstract = "{\textcopyright} 2017 The Author(s) A skin biopsy was obtained from a 25-year-old female patient with autosomal recessive Alport syndrome (ARAS) with the homozygous COL4A3 mutation c.345delG, p.(P166Lfs*37). Dermal fibroblasts were derived and reprogrammed by nucleofection with episomal plasmids carrying OCT3/4, SOX2, KLF4 LIN28, L-MYC and p53shRNA. The generated induced Pluripotent Stem Cell (iPSC) clone AS FiPS1 Ep6F-2 was free of genomically integrated reprogramming genes, had the specific homozygous mutation, a stable karyotype, expressed pluripotency markers and generated embryoid bodies which were differentiated towards the three germ layers in vitro. This iPSC line offers a useful resource to study Alport syndrome pathomechanisms and drug testing.",

author = "Bernd Kuebler and Bego{\~n}a Aran and Laia Miquel-Serra and Yolanda Mu{\~n}oz and Elisabet Ars and Gemma Bullich and Monica Furlano and Roser Torra and Merce Marti and Anna Veiga and Angel Raya",

year = "2017",

month = dec,

day = "1",

doi = "10.1016/j.scr.2017.08.021",

language = "English",

volume = "25",

pages = "1--5",

journal = "Stem Cell Research",

issn = "1873-5061",

}

Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS). / Kuebler, Bernd; Aran, Begoña; Miquel-Serra, Laia; Muñoz, Yolanda; Ars, Elisabet; Bullich, Gemma; Furlano, Monica; Torra, Roser; Marti, Merce; Veiga, Anna; Raya, Angel.

In: Stem Cell Research, Vol. 25, 01.12.2017, p. 1-5.

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

TY - JOUR

T1 - Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS)

AU - Kuebler, Bernd

AU - Aran, Begoña

AU - Miquel-Serra, Laia

AU - Muñoz, Yolanda

AU - Ars, Elisabet

AU - Bullich, Gemma

AU - Furlano, Monica

AU - Torra, Roser

AU - Marti, Merce

AU - Veiga, Anna

AU - Raya, Angel

PY - 2017/12/1

Y1 - 2017/12/1

N2 - © 2017 The Author(s) A skin biopsy was obtained from a 25-year-old female patient with autosomal recessive Alport syndrome (ARAS) with the homozygous COL4A3 mutation c.345delG, p.(P166Lfs*37). Dermal fibroblasts were derived and reprogrammed by nucleofection with episomal plasmids carrying OCT3/4, SOX2, KLF4 LIN28, L-MYC and p53shRNA. The generated induced Pluripotent Stem Cell (iPSC) clone AS FiPS1 Ep6F-2 was free of genomically integrated reprogramming genes, had the specific homozygous mutation, a stable karyotype, expressed pluripotency markers and generated embryoid bodies which were differentiated towards the three germ layers in vitro. This iPSC line offers a useful resource to study Alport syndrome pathomechanisms and drug testing.

AB - © 2017 The Author(s) A skin biopsy was obtained from a 25-year-old female patient with autosomal recessive Alport syndrome (ARAS) with the homozygous COL4A3 mutation c.345delG, p.(P166Lfs*37). Dermal fibroblasts were derived and reprogrammed by nucleofection with episomal plasmids carrying OCT3/4, SOX2, KLF4 LIN28, L-MYC and p53shRNA. The generated induced Pluripotent Stem Cell (iPSC) clone AS FiPS1 Ep6F-2 was free of genomically integrated reprogramming genes, had the specific homozygous mutation, a stable karyotype, expressed pluripotency markers and generated embryoid bodies which were differentiated towards the three germ layers in vitro. This iPSC line offers a useful resource to study Alport syndrome pathomechanisms and drug testing.

U2 - 10.1016/j.scr.2017.08.021

DO - 10.1016/j.scr.2017.08.021

M3 - Article

VL - 25

SP - 1

EP - 5

JO - Stem Cell Research

JF - Stem Cell Research

SN - 1873-5061

ER -

Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS)

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