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Generation of an iPSC line (IMAGINi011-A) from a patient carrying a STING mutation
- Source :
- Stem Cell Research, Vol 50, Iss, Pp 102107-(2021)
- Publication Year :
- 2020
-
Abstract
- 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.
- Subjects :
- 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
Subjects
Details
- ISSN :
- 18767753
- Volume :
- 50
- Database :
- OpenAIRE
- Journal :
- Stem cell research
- Accession number :
- edsair.doi.dedup.....8c28f3e3273c1ca0a297b053599ad88c