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Cellosaurus IMAGINi011-A (CVCL_A1WE)

[Text version]
Cell line name IMAGINi011-A
Synonyms IMAGINE011c19
Accession CVCL_A1WE
Resource Identification Initiative To cite this cell line use: IMAGINi011-A (RRID:CVCL_A1WE)
Comments From: Imagine Institute; Paris; France.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 27962; STING1; Simple; p.Val155Met (c.463G>A); ClinVar=VCV000143862; Zygosity=Heterozygous (PubMed=33340797).
Disease STING-associated vasculopathy, infantile-onset (NCIt: C177547)
STING-associated vasculopathy with onset in infancy (ORDO: Orphanet_425120)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 7Y
Category Induced pluripotent stem cell
Publications

PubMed=33340797; DOI=10.1016/j.scr.2020.102107
Barnabei L., Castela M., Banal C., Lefort N., Rieux-Laucat F.
Generation of an iPSC line (IMAGINi011-A) from a patient carrying a STING mutation.
Stem Cell Res. 50:102107-102107(2021)

Cross-references
Cell line databases/resources hPSCreg; IMAGINi011-A
Biological sample resources BioSamples; SAMEA7655476
Encyclopedic resources Wikidata; Q105509661
Entry history
Entry creation12-Jan-2021
Last entry update29-Jun-2023
Version number5