Generation of two iPSC lines from patients with Aicardi-Goutières syndrome carrying either biallelic ADAR1 mutations (PC138) or a heterozygous IFIH1 mutation (PC139)
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 (2025)
Publication Type: Journal article
Publication year: 2025
Book Volume: 89
Pages Range: 103873-
DOI: 10.1016/j.scr.2025.103873
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.
Involved external institutions
Université Sorbonne Paris Cité
France (FR)
Institut des maladies génétiques Imagine
France (FR)
Hôpital Necker-Enfants malades
France (FR)
Inselspital, Universitätsspital Bern
Switzerland (CH)
France (FR)
Institut des maladies génétiques Imagine
France (FR)
Hôpital Necker-Enfants malades
France (FR)
Inselspital, Universitätsspital Bern
Switzerland (CH)
How to cite
APA:
Zerad, L., Didry-Barca, B., Banal, C., Onteniente, B., Lefort, N., Lepelley, A.,... Frémond, M.L. (2025). Generation of two iPSC lines from patients with Aicardi-Goutières syndrome carrying either biallelic ADAR1 mutations (PC138) or a heterozygous IFIH1 mutation (PC139). , 89, 103873-. https://doi.org/10.1016/j.scr.2025.103873
MLA:
Zerad, Lisa, et al. "Generation of two iPSC lines from patients with Aicardi-Goutières syndrome carrying either biallelic ADAR1 mutations (PC138) or a heterozygous IFIH1 mutation (PC139)." 89 (2025): 103873-.
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