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Cellosaurus NIHTVBi016-A (CVCL_B7SS)

[Text version]
Cell line name NIHTVBi016-A
Synonyms HT876D
Accession CVCL_B7SS
Resource Identification Initiative To cite this cell line use: NIHTVBi016-A (RRID:CVCL_B7SS)
Comments From: National Heart, Lung, and Blood Institute, National Institutes of Health; Bethesda; USA.
Population: Latino or Hispanic.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; 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 Female
Age at sampling 22Y
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)

Cross-references
Cell line databases/resources hPSCreg; NIHTVBi016-A
Biological sample resources BioSamples; SAMEA14269913
Encyclopedic resources Wikidata; Q114312520
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4