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 | |
| Publication status | Published - 2019 |
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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 journal › Article
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TY - JOUR
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
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 -