Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B

Rosalba Monica Ferraro; Stefania Masneri; Gaetana Lanzi; Chiara Barisani; Giovanna Piovani; Giulia Savio; Marco Cattalini; Jessica Galli; Cristina Cereda; Marco Muzi-Falconi; Simona Orcesi; Elisa Fazzi; Silvia Giliani

doi:10.1016/j.scr.2019.101620

Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B

Rosalba Monica Ferraro, Stefania Masneri, Gaetana Lanzi, Chiara Barisani, Giovanna Piovani, Giulia Savio, Marco Cattalini, Jessica Galli, Cristina Cereda, Marco Muzi-Falconi, Simona Orcesi, Elisa Fazzi, Silvia Giliani

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

Abstract

We report the generation of three isogenic iPSC clones (UNIBSi007-A, UNIBSi007-B, and UNIBSi007-C) obtained from fibroblasts of a patient with Aicardi Goutières Syndrome (AGS) carrying a homozygous mutation in RNaseH2B. Cells were transduced using a Sendai virus based system, delivering the human OCT4, SOX2, c-MYC and KLF4 transcription factors. The resulting transgene-free iPSC lines retained the disease-causing DNA mutation, showed normal karyotype, expressed pluripotent markers and could differentiate in vitro toward cells of the three embryonic germ layers.

Original language	English
Pages (from-to)	101620
Journal	Stem Cell Research
Volume	41
Early online date	Oct 22 2019
DOIs	https://doi.org/10.1016/j.scr.2019.101620
Publication status	Published - 2019

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Ferraro, R. M., Masneri, S., Lanzi, G., Barisani, C., Piovani, G., Savio, G., Cattalini, M., Galli, J., Cereda, C., Muzi-Falconi, M., Orcesi, S., Fazzi, E., & Giliani, S. (2019). Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B. Stem Cell Research, 41, 101620. https://doi.org/10.1016/j.scr.2019.101620

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title = "Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Gouti{\`e}res syndrome mutated in RNaseH2B",

abstract = "We report the generation of three isogenic iPSC clones (UNIBSi007-A, UNIBSi007-B, and UNIBSi007-C) obtained from fibroblasts of a patient with Aicardi Gouti{\`e}res Syndrome (AGS) carrying a homozygous mutation in RNaseH2B. Cells were transduced using a Sendai virus based system, delivering the human OCT4, SOX2, c-MYC and KLF4 transcription factors. The resulting transgene-free iPSC lines retained the disease-causing DNA mutation, showed normal karyotype, expressed pluripotent markers and could differentiate in vitro toward cells of the three embryonic germ layers.",

author = "Ferraro, {Rosalba Monica} and Stefania Masneri and Gaetana Lanzi and Chiara Barisani and Giovanna Piovani and Giulia Savio and Marco Cattalini and Jessica Galli and Cristina Cereda and Marco Muzi-Falconi and Simona Orcesi and Elisa Fazzi and Silvia Giliani",

year = "2019",

doi = "10.1016/j.scr.2019.101620",

language = "English",

volume = "41",

pages = "101620",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Elsevier",

}

TY - JOUR

T1 - Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B

AU - Ferraro, Rosalba Monica

AU - Masneri, Stefania

AU - Lanzi, Gaetana

AU - Barisani, Chiara

AU - Piovani, Giovanna

AU - Savio, Giulia

AU - Cattalini, Marco

AU - Galli, Jessica

AU - Cereda, Cristina

AU - Muzi-Falconi, Marco

AU - Orcesi, Simona

AU - Fazzi, Elisa

AU - Giliani, Silvia

PY - 2019

Y1 - 2019

N2 - We report the generation of three isogenic iPSC clones (UNIBSi007-A, UNIBSi007-B, and UNIBSi007-C) obtained from fibroblasts of a patient with Aicardi Goutières Syndrome (AGS) carrying a homozygous mutation in RNaseH2B. Cells were transduced using a Sendai virus based system, delivering the human OCT4, SOX2, c-MYC and KLF4 transcription factors. The resulting transgene-free iPSC lines retained the disease-causing DNA mutation, showed normal karyotype, expressed pluripotent markers and could differentiate in vitro toward cells of the three embryonic germ layers.

AB - We report the generation of three isogenic iPSC clones (UNIBSi007-A, UNIBSi007-B, and UNIBSi007-C) obtained from fibroblasts of a patient with Aicardi Goutières Syndrome (AGS) carrying a homozygous mutation in RNaseH2B. Cells were transduced using a Sendai virus based system, delivering the human OCT4, SOX2, c-MYC and KLF4 transcription factors. The resulting transgene-free iPSC lines retained the disease-causing DNA mutation, showed normal karyotype, expressed pluripotent markers and could differentiate in vitro toward cells of the three embryonic germ layers.

U2 - 10.1016/j.scr.2019.101620

DO - 10.1016/j.scr.2019.101620

M3 - Article

C2 - 31678772

SN - 1873-5061

VL - 41

SP - 101620

JO - Stem Cell Research

JF - Stem Cell Research

ER -

Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B

Abstract

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