Cellosaurus cell line NIHTVBi025-A (CVCL

Cross-references
Cell line name	NIHTVBi025-A
Synonyms	198-2
Accession	CVCL_C1QE
Resource Identification Initiative	To cite this cell line use: NIHTVBi025-A (RRID:CVCL_C1QE)
Comments	From: National Heart, Lung, and Blood Institute, National Institutes of Health; Bethesda; USA. Population: Hispanic. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:27962; STING1; Simple; p.Val147Leu (c.439G>C); ClinVar=VCV000143863; 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	Male
Age at sampling	12Y
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)
Cell line databases/resources	hPSCreg; NIHTVBi025-A
Biological sample resources	BioSamples; SAMEA110420003
Encyclopedic resources	Wikidata; Q114312544
Entry history
Entry creation	22-Sep-2022
Last entry update	19-Dec-2024
Version number	5