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

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)101623
JournalStem Cell Research
Volume41
Early online dateOct 22 2019
DOIs
Publication statusPublished - 2019

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Aicardi Syndrome
Induced Pluripotent Stem Cells
Fibroblasts
Cell Line
Mutation
Clone Cells
Genes
Sendai virus
Lymphocytosis
Double-Stranded RNA
Brain Diseases
Cerebrospinal Fluid
Biomarkers
Therapeutics

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

In: Stem Cell Research, Vol. 41, 2019, p. 101623.

Research output: Contribution to journalArticle

Masneri, Stefania ; Lanzi, Gaetana ; Ferraro, Rosalba Monica ; Barisani, Chiara ; Piovani, Giovanna ; Savio, Giulia ; Cattalini, Marco ; Galli, Jessica ; Cereda, Cristina ; Muzi-Falconi, Marco ; Orcesi, Simona ; Fazzi, Elisa ; Giliani, Silvia. / 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. In: Stem Cell Research. 2019 ; Vol. 41. pp. 101623.
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T1 - 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

AU - Masneri, Stefania

AU - Lanzi, Gaetana

AU - Ferraro, Rosalba Monica

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

N1 - Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

PY - 2019

Y1 - 2019

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AB - 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.

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