Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene

Stefania Masneri; Gaetana Lanzi; Rosalba Monica Ferraro; 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)

Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene

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

Affiliations

Stefania Masneri: Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; “Angelo Nocivelli” Institute for Molecular Medicine, ASST Spedali Civili, Brescia, Italy; Corresponding author.
Gaetana Lanzi: Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; “Angelo Nocivelli” Institute for Molecular Medicine, ASST Spedali Civili, Brescia, Italy
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
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: Department of Clinical and Experimental Sciences, University of Brescia, 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: Department of Clinical and Experimental Sciences, University of Brescia, 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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Aicardi-Goutières syndrome (AGS) is an early-onset monogenic encephalopathy characterized by intracranial calcification, leukodystrophy and cerebrospinal fluid lymphocytosis. To date, seven genes have been related to AGS. Among these, IFIH1 encodes for MDA5, a cytosolic double-stranded RNA receptor, and is responsible for AGS type 7. We generated three isogenic iPSC clones, using a Sendai virus-based vector, starting from fibroblasts of a patient carrying a dominant mutation in IFIH1. All lines were characterized for genomic integrity, genetic uniqueness, pluripotency, and differentiation capability. Our clones might offer a good model to investigate AGS7 pathophysiological mechanism and to discover new biomarkers for this condition treatment.

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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