ID   201B7-R334W
AC   CVCL_A4IP
DR   Wikidata; Q105505882
RX   PubMed=28587749;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 5331; NOD2; Simple_edited; p.Arg334Trp (c.1000C>T); ClinVar=VCV000004696; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=28587749).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C116794; Blau syndrome
DI   ORDO; Orphanet_90340; Blau syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A324 ! 201B7
SX   Female
AG   36Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 5
//
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).
//