Generation of three induced pluripotent stem cell lines from individuals with Aicardi-Goutières syndrome caused by a c.3019G>A (p.G1007R) autosomal dominant pathogenic variant in ADAR1


Mutations in Adenosine deaminase acting on RNA 1 (ADAR1) gene encoding RNA editing enzyme ADAR1 results in the neuroinflammatory leukodystrophy Aicardi Goutières Syndrome (AGS). AGS is an early onset leukoencephalopathy with an exacerbated interferon response leading to neurological regression with intellectual disability, spasticity, and motor deficits. We have generated three induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) of individuals with ADAR1G1007R mutation. The generated iPSCs were investigated to confirm a normal karyotype, pluripotency, and trilineage differentiation potential. The reprogrammed iPSCs will allow us to model AGS, dissect the cellular mechanisms and testing different treatment targets. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Garcia L, Gonzalez CD, Gagne A, McGuire JA, French D, Takanohashi A, Almad A, Vanderver A, Sase S
Journal Stem cell research
Publication Date 2024 Feb;74:103299
PubMed 38181636
PubMed Central PMC10836393
DOI 10.1016/j.scr.2023.103299

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