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Cellosaurus NIHTVBi024-A (CVCL_C1QD)

[Text version]
Cell line name NIHTVBi024-A
Synonyms 182-5
Accession CVCL_C1QD
Resource Identification Initiative To cite this cell line use: NIHTVBi024-A (RRID:CVCL_C1QD)
Comments From: National Heart, Lung, and Blood Institute, National Institutes of Health; Bethesda; USA.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 27962; STING1; Simple; p.Asn154Ser (c.461A>G); ClinVar=VCV000143861; Zygosity=Heterozygous (PubMed=36399927).
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 15Y
Category Induced pluripotent stem cell
Publications

PubMed=36399927; DOI=10.1016/j.scr.2022.102974; PMCID=PMC9799028
Mehta A., Yu Q., Liu Y.-T., Yang D., Zou J.-H., Beers J.K., de Jesus Rasheed A.A., Rastegar A.T., Goldbach-Mansky R.T., Boehm M., Chen G.-B.
Human induced pluripotent stem cells generated from STING-associated vasculopathy with onset in infancy (SAVI) patients with a heterozygous mutation in the STING gene.
Stem Cell Res. 65:102974-102974(2022)

Cross-references
Cell line databases/resources hPSCreg; NIHTVBi024-A
Biological sample resources BioSamples; SAMEA110414316
Encyclopedic resources Wikidata; Q114312542
Entry history
Entry creation22-Sep-2022
Last entry update29-Jun-2023
Version number4