ID   U2OS C9orf72-/-
AC   CVCL_A4HP
DR   Wikidata; Q105511297
RX   PubMed=31612854;
CC   Population: Caucasian.
CC   Knockout cell: Method=CRISPR/Cas9; HGNC; HGNC:28337; C9orf72.
CC   Sequence variation: Mutation; HGNC; HGNC:9277; PPM1D; Simple; p.Arg458Ter (c.1372C>T); ClinVar=VCV002445214; Zygosity=Heterozygous (from parent cell line).
CC   Derived from site: In situ; Bone, tibia; UBERON=UBERON_0000979.
DI   NCIt; C9145; Osteosarcoma
DI   ORDO; Orphanet_668; Osteosarcoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_0042 ! U2OS
SX   Female
AG   15Y
CA   Cancer cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=31612854; DOI=10.7554/eLife.48363; PMCID=PMC6794092;
RA   Laflamme C., McKeever P.M., Kumar R., Schwartz J., Kolahdouzan M.,
RA   Chen C.X.-Q., You Z.-P., Benaliouad F., Gileadi O., McBride H.M.,
RA   Durcan T.M., Edwards A.M., Healy L.M., Robertson J., McPherson P.S.;
RT   "Implementation of an antibody characterization procedure and
RT   application to the major ALS/FTD disease gene C9ORF72.";
RL   eLife 8:e48363.1-e48363.26(2019).
//