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Cellosaurus 201B7-R334W (CVCL_A4IP)

[Text version]
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
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; Q105505882
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number7