Generation of an iPSC line (IMAGINi011-A) from a patient carrying a STING mutation
| Autor: | Frédéric Rieux-Laucat, Celine Banal, Laura Barnabei, Nathalie Lefort, Mathieu Castela |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Mutation Karyotype Cell Biology General Medicine Biology medicine.disease_cause 03 medical and health sciences Sting 030104 developmental biology 0302 clinical medicine medicine.anatomical_structure lcsh:Biology (General) Cancer research medicine Induced pluripotent stem cell Ipsc line Gene lcsh:QH301-705.5 030217 neurology & neurosurgery Germ cell Developmental Biology |
| Zdroj: | Stem Cell Research, Vol 50, Iss, Pp 102107-(2021) |
| ISSN: | 1876-7753 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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