Cellosaurus cell line NIHTVBi017-A (CVCL

Cross-references
Cell line name	NIHTVBi017-A
Synonyms	HT939A
Accession	CVCL_B7ST
Resource Identification Initiative	To cite this cell line use: NIHTVBi017-A (RRID:CVCL_B7ST)
Comments	From: National Heart, Lung, and Blood Institute, National Institutes of Health; Bethesda; USA. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:9545; PSMB8; Simple; p.Thr75Met (c.224C>T); ClinVar=VCV000659832; Zygosity=Homozygous (PubMed=35660921).
Disease	Proteasome-associated autoinflammatory syndrome 1 (NCIt: C176619) Proteasome-associated autoinflammatory syndrome (ORDO: Orphanet_324977)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	6Y
Category	Induced pluripotent stem cell
Publications	PubMed=35660921; DOI=10.1016/j.scr.2022.102820; PMCID=PMC9514390 Yu Q., Mehta A., Zou J.-Z., Beers J.K., de Jesus Rasheed A.A., Goldbach-Mansky R.T., Boehm M., Chen G.-B. Human induced pluripotent stem cells generated from chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome patients with a homozygous mutation in the PSMB8 gene (NIHTVBi016-A, NIHTVBi017-A, NIHTVBi018-A). Stem Cell Res. 62:102820-102820(2022)
Cell line databases/resources	hPSCreg; NIHTVBi017-A
Biological sample resources	BioSamples; SAMEA14305983
Encyclopedic resources	Wikidata; Q114312521
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	5