ID   A-673 EHD1 KO
AC   CVCL_D6TY
SY   EHD1-KO A673
RX   PubMed=37474760;
CC   Problematic cell line: Misclassified. Parent cell line (A-673) was originally thought to be a rhabdomyosarcoma cell line but is an Ewing sarcoma cell line.
CC   Population: Caucasian.
CC   Knockout cell: Method=CRISPR/Cas9; HGNC; 3242; EHD1.
CC   Sequence variation: Gene deletion; HGNC; 1787; CDKN2A; Zygosity=Homozygous (from parent cell line).
CC   Sequence variation: Gene fusion; HGNC; 3508; EWSR1 + HGNC; 3749; FLI1; Name(s)=EWSR1-FLI1, EWS-FLI1; Note=Type 1 fusion (Ex7/Ex6) (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 1097; BRAF; Simple; p.Val600Glu (c.1799T>A); ClinVar=VCV000013961; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 11998; TP53; Simple; p.Ala119Glnfs*5 (c.353_354dupCA) (c.354_355insCA); Zygosity=Homozygous (from parent cell line).
CC   Derived from site: In situ; Muscle; UBERON=UBERON_0001630.
DI   NCIt; C4817; Ewing sarcoma
DI   ORDO; Orphanet_319; Ewing sarcoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_0080 ! A-673
SX   Female
AG   15Y
CA   Cancer cell line
DT   Created: 10-09-24; Last updated: 10-09-24; Version: 1
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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).
//