Generation of an iPSC line (IMAGINi011-A) from a patient carrying a STING mutation
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 &g...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2021-01-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506120304086 |
| _version_ | 1818936474700087296 |
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| author | Laura Barnabei Mathieu Castela Celine Banal Nathalie Lefort Frédéric Rieux-Laucat |
| author_facet | Laura Barnabei Mathieu Castela Celine Banal Nathalie Lefort Frédéric Rieux-Laucat |
| author_sort | Laura Barnabei |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-20T05:36:39Z |
| format | Article |
| id | doaj.art-81ad31efa917443187cf23ec5014d030 |
| institution | Directory Open Access Journal |
| issn | 1873-5061 |
| language | English |
| last_indexed | 2024-12-20T05:36:39Z |
| publishDate | 2021-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Stem Cell Research |
| spelling | doaj.art-81ad31efa917443187cf23ec5014d0302022-12-21T19:51:36ZengElsevierStem Cell Research1873-50612021-01-0150102107Generation of an iPSC line (IMAGINi011-A) from a patient carrying a STING mutationLaura Barnabei0Mathieu Castela1Celine Banal2Nathalie Lefort3Frédéric Rieux-Laucat4Université de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR U1163, F-75015 Paris, FranceUniversité de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR U1163, F-75015 Paris, France, Inovarion, Paris F-75005, FranceUniversité de Paris, Imagine Institute, iPSC Core Facility, INSERM UMR U1163, F-75015 Paris, FranceUniversité de Paris, Imagine Institute, iPSC Core Facility, INSERM UMR U1163, F-75015 Paris, France; Corresponding authors at: 24 Boulevard du Montparnasse, 75015 Paris, France.Université de Paris, Imagine Institute, Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR U1163, F-75015 Paris, France; Corresponding authors at: 24 Boulevard du Montparnasse, 75015 Paris, France.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.http://www.sciencedirect.com/science/article/pii/S1873506120304086 |
| spellingShingle | Laura Barnabei Mathieu Castela Celine Banal Nathalie Lefort Frédéric Rieux-Laucat Generation of an iPSC line (IMAGINi011-A) from a patient carrying a STING mutation Stem Cell Research |
| title | Generation of an iPSC line (IMAGINi011-A) from a patient carrying a STING mutation |
| title_full | Generation of an iPSC line (IMAGINi011-A) from a patient carrying a STING mutation |
| title_fullStr | Generation of an iPSC line (IMAGINi011-A) from a patient carrying a STING mutation |
| title_full_unstemmed | Generation of an iPSC line (IMAGINi011-A) from a patient carrying a STING mutation |
| title_short | Generation of an iPSC line (IMAGINi011-A) from a patient carrying a STING mutation |
| title_sort | generation of an ipsc line imagini011 a from a patient carrying a sting mutation |
| url | http://www.sciencedirect.com/science/article/pii/S1873506120304086 |
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