Generation of two iPSC lines from patients with Aicardi-Goutières syndrome carrying either biallelic ADAR1 mutations (PC138) or a heterozygous IFIH1 mutation (PC139)
Summary
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. Copyright © 2025 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Zerad L, Didry-Barca B, Banal C, Onteniente B, Lefort N, Lepelley A, Seabra L, Hully M, Zweier C, Bondurand N, Crow YJ, Frémond ML |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Dec;89:103873 |
| PubMed | 41351966 |
| PubMed Central | PMC7618548 |
| DOI | 10.1016/j.scr.2025.103873 |