Generation of two iPSC lines from patients with Aicardi-Goutières syndrome carrying either biallelic ADAR1 mutations (PC138) or a heterozygous IFIH1 mutation (PC139)
Year: 2025
Type: article
Abstract: Mutations in ADAR1 (Adenosine deaminase acting on RNA 1) and IFIH1 (Interferon Induced With Helicase C Domain 1) are associated with Aicardi-Goutières syndrome (AGS), a genetically determined inflammatory disorder particularly affecting the brain and skin. Here, we generated induced pluripotent stem cells (iPSCs) from one patient carrying compound heterozygous loss-of-function mutations in ADAR1 (PC138/AGS0788.1: c.577C > G p.(Pro193Ala) and c.1386_1390del p.(Asp462Glufs*2)), and one individual carrying a heterozygous gain-of-function mutation in IFIH1 (PC139/AGS2177.1: c.2336G > A p.(Arg779His)). Cells from these patients were reprogrammed by episomal transfection, had normal karyotype, expressed pluripotency markers and were able to differentiate into the three germ cell layers.
Source: Stem Cell Research
Authors: Lisa Zerad, Blaise Didry-Barca, Céline Banal, Brigitte Onteniente, Nathalie Lefort, Alice Lepelley, Luis Seabra, Marie Hully, Christiane Zweier, Nadège Bondurand, Yanick J. Crow, Marie-Louise Frémond
Institutions: Université Paris Cité, Institut des Maladies Génétiques Imagine, Inserm, Hôpital Necker-Enfants Malades, Assistance Publique – Hôpitaux de Paris, University of Bern, Friedrich-Alexander-Universität Erlangen-Nürnberg, University Hospital of Bern, Institute of Genetics and Cancer, MRC Human Genetics Unit, University of Edinburgh
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,360
Awards: G2461695620, G250961418, G42150247
OpenAlex ID: W4416746234