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Cellosaurus Blau1-R334W-iPSC (CVCL_A4IQ)

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Cell line name Blau1-R334W-iPSC
Synonyms Blau1E
Accession CVCL_A4IQ
Resource Identification Initiative To cite this cell line use: Blau1-R334W-iPSC (RRID:CVCL_A4IQ)
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_A4IS (Blau1-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
Sanami Takada, Naotomo Kambe, Yuri Kawasaki, Akira Niwa, Fumiko Honda-Ozaki, Kazuki Kobayashi, Mitsujiro Osawa, Ayako Nagahashi, Katsunori Semi, Akitsu Hotta, Isao Asaka ...Show all 17 authors... , Yasuhiro Yamada, Ryuta Nishikomori, Toshio Heike, Hiroyuki Matsue, Tatsutoshi Nakahata, Megumu K. Saito; Show fewer authors
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
Cell line databases/resources SKIP; SKIP005530
Encyclopedic resources Wikidata; Q105506520
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6