ID   IMAGINi011-A
AC   CVCL_A1WE
SY   IMAGINE011c19
DR   BioSamples; SAMEA7655476
DR   hPSCreg; IMAGINi011-A
DR   Wikidata; Q105509661
RX   PubMed=33340797;
CC   From: Imagine Institute; Paris; France.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 27962; STING1; Simple; p.Val155Met (c.463G>A); ClinVar=VCV000143862; Zygosity=Heterozygous (PubMed=33340797).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C177547; STING-associated vasculopathy, infantile-onset
DI   ORDO; Orphanet_425120; STING-associated vasculopathy with onset in infancy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   7Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33340797; DOI=10.1016/j.scr.2020.102107;
RA   Barnabei L., Castela M., Banal C., Lefort N., Rieux-Laucat F.;
RT   "Generation of an iPSC line (IMAGINi011-A) from a patient carrying a
RT   STING mutation.";
RL   Stem Cell Res. 50:102107-102107(2021).
//