ID   TC-71 EHD1 KO
AC   CVCL_D6TX
SY   EHD1-KO TC71
RX   PubMed=37474760;
CC   Population: Caucasian.
CC   Knockout cell: Method=CRISPR/Cas9; HGNC; HGNC:3242; EHD1.
CC   Sequence variation: Gene deletion; HGNC; HGNC:1787; CDKN2A; Zygosity=Homozygous (from parent cell line).
CC   Sequence variation: Gene fusion; HGNC; HGNC:3508; EWSR1 + HGNC; HGNC:3749; FLI1; Name(s)=EWSR1-FLI1, EWS-FLI1 (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:6407; KRAS; Simple; p.Gly12Asp (c.35G>A); ClinVar=VCV000012582; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:9588; PTEN; Simple; p.Arg233Ter (c.697C>T); ClinVar=VCV000007813; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:11998; TP53; Simple; p.Arg213Ter (c.637C>T); ClinVar=VCV000043590; Zygosity=Unspecified (from parent cell line).
CC   Omics: Transcriptomics; Microarray.
CC   Derived from site: In situ; Bone, humerus; UBERON=UBERON_0000976.
DI   NCIt; C4817; Ewing sarcoma
DI   ORDO; Orphanet_319; Ewing sarcoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_2213 ! TC-71
SX   Male
AG   22Y
CA   Cancer cell line
DT   Created: 10-09-24; Last updated: 10-04-25; Version: 3
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RX   PubMed=37474760; DOI=10.1038/s42003-023-05125-1; PMCID=PMC10359273;
RA   Chakraborty S., Bhat A.M., Mushtaq I., Luan H.-T., Kalluchi A., Mirza S.,
RA   Storck M.D., Chaturvedi N., Lopez-Guerrero J.A., Llombart-Bosch A.,
RA   Machado I., Scotlandi K., Meza J.L., Ghosal G., Coulter D.W.,
RA   Rowley M.J., Band V., Mohapatra B.C., Band H.;
RT   "EHD1-dependent traffic of IGF-1 receptor to the cell surface is
RT   essential for Ewing sarcoma tumorigenesis and metastasis.";
RL   Commun. Biol. 6:758.1-758.21(2023).
//