Cellosaurus logo
expasy logo

Cellosaurus U2OS C9orf72-/- (CVCL_A4HP)

[Text][XML][JSON]
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; HGNC:28337; C9orf72.
Derived from site: In situ; Bone, tibia; UBERON=UBERON_0000979.
Sequence variations
  • Mutation; HGNC; 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
Publications

PubMed=31612854; DOI=10.7554/eLife.48363; PMCID=PMC6794092
Carl Laflamme, Paul M. McKeever, Rahul Kumar, Julie Schwartz, Mahshad Kolahdouzan, Carol Xiu-Qing Chen, Zhi-Peng You, Faiza Benaliouad, Opher Gileadi, Heidi M. McBride, Thomas M. Durcan ...Show all 15 authors... , Aled Morgan Edwards, Luke M. Healy, Janice Robertson, Peter Scott McPherson; Show fewer authors
Implementation of an antibody characterization procedure and application to the major ALS/FTD disease gene C9ORF72.
eLife 8:e48363.1-e48363.26(2019)

Cross-references
Encyclopedic resources Wikidata; Q105511297
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6