ID   Blau1-R334W-iPSC
AC   CVCL_A4IQ
SY   Blau1E
DR   SKIP; SKIP005530
DR   Wikidata; Q105506520
RX   PubMed=28587749;
CC   From: Center for iPS Cell Research and Application, Kyoto University; Kyoto; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:5331; NOD2; Simple; p.Arg334Trp (c.1000C>T) (p.Arg307Trp, c.919C>T); ClinVar=VCV000004696; Zygosity=Heterozygous (PubMed=28587749).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C116794; Blau syndrome
DI   ORDO; Orphanet_90340; Blau syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Children
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=28587749; DOI=10.1016/j.jaci.2017.04.013;
RA   Takada S., Kambe N., Kawasaki Y., Niwa A., Honda-Ozaki F.,
RA   Kobayashi K., Osawa M., Nagahashi A., Semi K., Hotta A., Asaka I.,
RA   Yamada Y., Nishikomori R., Heike T., Matsue H., Nakahata T.,
RA   Saito M.K.;
RT   "Pluripotent stem cell models of Blau syndrome reveal an
RT   IFN-gamma-dependent inflammatory response in macrophages.";
RL   J. Allergy Clin. Immunol. 141:339-349.e11(2018).
//