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Cellosaurus Blau2-R334W-iPSC (CVCL_A4IR)

[Text version]
Cell line name Blau2-R334W-iPSC
Synonyms Blau2B
Accession CVCL_A4IR
Resource Identification Initiative To cite this cell line use: Blau2-R334W-iPSC (RRID:CVCL_A4IR)
Comments From: Center for iPS Cell Research and Application, Kyoto University; Kyoto; Japan.
Population: Japanese.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:5331; NOD2; Simple; p.Arg334Trp (c.1000C>T) (p.Arg307Trp, c.919C>T); ClinVar=VCV000004696; Zygosity=Heterozygous (PubMed=28587749).
Disease Blau syndrome (NCIt: C116794)
Blau syndrome (ORDO: Orphanet_90340)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_A4IT (Blau2-corrected-iPSC)
Sex of cell Male
Age at sampling Children
Category Induced pluripotent stem cell
Publications

PubMed=28587749; DOI=10.1016/j.jaci.2017.04.013
Takada S., Kambe N., Kawasaki Y., Niwa A., Honda-Ozaki F., Kobayashi K., Osawa M., Nagahashi A., Semi K., Hotta A., Asaka I., Yamada Y., Nishikomori R., Heike T., Matsue H., Nakahata T., Saito M.K.
Pluripotent stem cell models of Blau syndrome reveal an IFN-gamma-dependent inflammatory response in macrophages.
J. Allergy Clin. Immunol. 141:339-349.e11(2018)

Cross-references
Encyclopedic resources Wikidata; Q105506527
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6