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Generation of an iPSC line (IMAGINi011-A) from a patient carrying a STING mutation
oleh: Laura Barnabei, Mathieu Castela, Celine Banal, Nathalie Lefort, Frédéric Rieux-Laucat
Format: | Article |
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Diterbitkan: | Elsevier 2021-01-01 |
Deskripsi
Mutation in STING1 gene, 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.