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

doi:10.1016/j.scr.2019.101623

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 journal › Article › peer-review

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 language	English
Pages (from-to)	101623
Journal	Stem Cell Research
Volume	41
Early online date	Oct 22 2019
DOIs	https://doi.org/10.1016/j.scr.2019.101623
Publication status	Published - 2019

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10.1016/j.scr.2019.101623

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Masneri, S., Lanzi, G., Ferraro, R. M., Barisani, C., Piovani, G., Savio, G., Cattalini, M., Galli, J., Cereda, C., Muzi-Falconi, M., Orcesi, S., Fazzi, E., & Giliani, S. (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. Stem Cell Research, 41, 101623. https://doi.org/10.1016/j.scr.2019.101623

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 et al.

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

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

Masneri, S, Lanzi, G, Ferraro, RM, Barisani, C, Piovani, G, Savio, G, Cattalini, M, Galli, J, Cereda, C, Muzi-Falconi, M, Orcesi, S, Fazzi, E & Giliani, S 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', Stem Cell Research, vol. 41, pp. 101623. https://doi.org/10.1016/j.scr.2019.101623

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title = "Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Gouti{\`e}res Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene",

abstract = "Aicardi-Gouti{\`e}res 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.",

author = "Stefania Masneri and Gaetana Lanzi and Ferraro, {Rosalba Monica} 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",

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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

PY - 2019

Y1 - 2019

N2 - 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.

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.

U2 - 10.1016/j.scr.2019.101623

DO - 10.1016/j.scr.2019.101623

M3 - Article

C2 - 31698194

VL - 41

SP - 101623

JO - Stem Cell Research

JF - Stem Cell Research

SN - 1873-5061

ER -

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

Abstract

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