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Cellosaurus U2OS C9orf72-/- (CVCL_A4HP)

[Text version]
Cell line name U2OS C9orf72-/-
Accession CVCL_A4HP
Resource Identification Initiative To cite this cell line use: U2OS C9orf72-/- (RRID:CVCL_A4HP)
Comments Population: Caucasian.
Knockout cell: Method=CRISPR/Cas9; HGNC; 28337; C9orf72.
Derived from site: In situ; Bone, tibia; UBERON=UBERON_0000979.
Sequence variations
  • Mutation; HGNC; 9277; PPM1D; Simple; p.Arg458Ter (c.1372C>T); ClinVar=VCV002445214; Zygosity=Heterozygous (from parent cell line).
Disease Osteosarcoma (NCIt: C9145)
Osteosarcoma (ORDO: Orphanet_668)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_0042 (U2OS)
Sex of cell Female
Age at sampling 15Y
Category Cancer cell line

PubMed=31612854; DOI=10.7554/eLife.48363
Laflamme C., McKeever P.M., Kumar R., Schwartz J., Kolahdouzan M., Chen C.X.-Q., You Z.-P., Benaliouad F., Gileadi O., McBride H.M., Durcan T.M., Edwards A.M., Healy L.M., Robertson J., McPherson P.S.
Implementation of an antibody characterization procedure and application to the major ALS/FTD disease gene C9ORF72.
eLife 8:e48363.1-e48363.26(2019)

Encyclopedic resources Wikidata; Q105511297
Entry history
Entry creation12-Jan-2021
Last entry update05-Oct-2023
Version number5