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Cellosaurus 201B7-R334W (CVCL_A4IP)

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Cell line name 201B7-R334W
Accession CVCL_A4IP
Resource Identification Initiative To cite this cell line use: 201B7-R334W (RRID:CVCL_A4IP)
Comments Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:5331; NOD2; Simple_edited; p.Arg334Trp (c.1000C>T) (p.Arg307Trp, c.919C>T); ClinVar=VCV000004696; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=28587749).
Disease Blau syndrome (NCIt: C116794)
Blau syndrome (ORDO: Orphanet_90340)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_A324 (201B7)
Sex of cell Female
Age at sampling 36Y
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
Encyclopedic resources Wikidata; Q105505882
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number7