| Title: |
Generation of an iPSC line (IMAGINi011-A) from a patient carrying a STING mutation. |
| Authors: |
Barnabei, Laura1 (AUTHOR); Castela, Mathieu1,2 (AUTHOR); Banal, Celine3 (AUTHOR); Lefort, Nathalie1,3 (AUTHOR) nathalie.lefort@inserm.fr; Rieux-Laucat, Frédéric1 (AUTHOR) frederic.rieux-laucat@inserm.fr |
| Source: |
Stem Cell Research. Jan2021, Vol. 50, pN.PAG-N.PAG. 1p. |
| 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. [ABSTRACT FROM AUTHOR] |
| Database: |
Supplemental Index |