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


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

Authors 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
Journal Stem cell research
Publication Date 2019 Dec;41:101623
PubMed 31698194
DOI 10.1016/j.scr.2019.101623

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