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

Stem Cell Research (Dec 2019)

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

Affiliations

Rosalba Monica Ferraro: Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; Angelo Nocivelli Institute for Molecular Medicine, ASST Spedali Civili, Brescia, Italy; Corresponding author.
Stefania Masneri: Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; Angelo Nocivelli Institute for Molecular Medicine, ASST Spedali Civili, Brescia, Italy
Gaetana Lanzi: Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; Angelo Nocivelli Institute for Molecular Medicine, ASST Spedali Civili, Brescia, Italy
Chiara Barisani: Angelo Nocivelli Institute for Molecular Medicine, ASST Spedali Civili, Brescia, Italy
Giovanna Piovani: Biology and Genetics Division, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy
Giulia Savio: Biology and Genetics Division, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy
Marco Cattalini: Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy; Pediatric Clinic, ASST Spedali Civili, Brescia, Italy
Jessica Galli: Pediatric Clinic, ASST Spedali Civili, Brescia, Italy; Child Neurology and Psychiatry Unit, ASST Spedali Civili, Brescia, Italy
Cristina Cereda: Center of Genomic and Post-Genomic, IRCCS Mondino Foundation, Pavia, Italy
Marco Muzi-Falconi: Department of Biosciences, University of Milano, Milano, Italy
Simona Orcesi: Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy
Elisa Fazzi: Pediatric Clinic, ASST Spedali Civili, Brescia, Italy; Child Neurology and Psychiatry Unit, ASST Spedali Civili, Brescia, Italy
Silvia Giliani: Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; Angelo Nocivelli Institute for Molecular Medicine, ASST Spedali Civili, Brescia, Italy

Journal volume & issue: Vol. 41

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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