Generation of an iPSC line (IMAGINi011-A) from a patient carrying a STING mutation

Laura Barnabei; Mathieu Castela; Celine Banal; Nathalie Lefort; Frédéric Rieux-Laucat

doi:10.1016/j.scr.2020.102107

Generation of an iPSC line (IMAGINi011-A) from a patient carrying a STING mutation

Stem Cell Res. 2020 Dec 2:50:102107. doi: 10.1016/j.scr.2020.102107. Online ahead of print.

Authors

Laura Barnabei¹, Mathieu Castela², Celine Banal³, Nathalie Lefort⁴, Frédéric Rieux-Laucat⁵

Affiliations

¹ Université de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR U1163, F-75015 Paris, France.
² Université de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR U1163, F-75015 Paris, France, Inovarion, Paris F-75005, France.
³ Université de Paris, Imagine Institute, iPSC Core Facility, INSERM UMR U1163, F-75015 Paris, France.
⁴ Université de Paris, Imagine Institute, iPSC Core Facility, INSERM UMR U1163, F-75015 Paris, France. Electronic address: nathalie.lefort@inserm.fr.
⁵ Université de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR U1163, F-75015 Paris, France. Electronic address: frederic.rieux-laucat@inserm.fr.

PMID: 33340797
DOI: 10.1016/j.scr.2020.102107

Abstract

Mutation in STING1gene, which encodes stimulator of type I IFN gene (STING) leads to its constitutive activation and thereby to a severe vasculopathy and sometimes a lupus-like disease. We generated induced pluripotent stem cells (iPSCs) from a patient carrying a rare heterozygous variant c.463G > A (resulting in a p.V155M substitution) in STING1. Cells from this patient, which were reprogrammed by non-integrative viral transduction, had normal karyotype, expressed pluripotency markers and were able to differentiate into the three germ cell layers.