SY   HT876D
DR   BioSamples; SAMEA14269913
DR   hPSCreg; NIHTVBi016-A
DR   Wikidata; Q114312520
RX   PubMed=35660921;
CC   From: National Heart, Lung, and Blood Institute, National Institutes of Health; Bethesda; USA.
CC   Population: Latino or Hispanic.
CC   Sequence variation: Mutation; HGNC; 9545; PSMB8; Simple; p.Thr75Met (c.224C>T); ClinVar=VCV000659832; Zygosity=Homozygous (PubMed=35660921).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C176619; Proteasome-associated autoinflammatory syndrome 1
DI   ORDO; Orphanet_324977; Proteasome-associated autoinflammatory syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   22Y
CA   Induced pluripotent stem cell
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
RX   PubMed=35660921; DOI=10.1016/j.scr.2022.102820;
RA   Yu Q., Mehta A., Zou J.-Z., Beers J.K., de Jesus Rasheed A.A.,
RA   Goldbach-Mansky R.T., Boehm M., Chen G.-B.;
RT   "Human induced pluripotent stem cells generated from chronic atypical
RT   neutrophilic dermatosis with lipodystrophy and elevated temperature
RT   (CANDLE) syndrome patients with a homozygous mutation in the PSMB8 gene
RT   (NIHTVBi016-A, NIHTVBi017-A, NIHTVBi018-A).";
RL   Stem Cell Res. 62:102820-102820(2022).