Generation of two iPSC lines from patients with Aicardi-Goutières syndrome carrying either biallelic ADAR1 mutations (PC138) or a heterozygous IFIH1 mutation (PC139).
Publisher DOI
PubMed ID
41351966
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.
Date Issued
2025
Publication Type
Article
Subject(s)
Language(s)
en
Author(s)
Zerad, Lisa | |
Didry-Barca, Blaise | |
Banal, Céline | |
Onteniente, Brigitte | |
Lefort, Nathalie | |
Lepelley, Alice | |
Seabra, Luis | |
Hully, Marie | |
Bondurand, Nadège | |
Crow, Yanick J | |
Frémond, Marie-Louise |
Additional Credits
Journal
Stem Cell Research
Publisher
Elsevier
ISSN
1876-7753
1873-5061
Access(Rights)
open.access