ID   SK-N-AS THAP1 L180S clone 8
AC   CVCL_E5VD
DR   ABM; T3308
RX   PubMed=32112337;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:7989; NRAS; Simple; p.Gln61Lys (c.181C>A); ClinVar=VCV000073058; Zygosity=Heterozygous (from parent cell line).
CC   Genetic integration: Method=Transfection; Gene=HGNC; HGNC:20856; THAP1 (Note=With p.Leu180Ser).
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P00552; Transposon Tn5 neo.
CC   Derived from site: Metastatic; Bone marrow; UBERON=UBERON_0002371.
DI   NCIt; C3270; Neuroblastoma
DI   ORDO; Orphanet_635; Neuroblastoma
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_1700 ! SK-N-AS
SX   Female
AG   6Y
CA   Cancer cell line
DT   Created: 10-04-25; Last updated: 10-04-25; Version: 1
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RX   PubMed=32112337; DOI=10.1007/s12031-020-01490-2; PMCID=PMC7334247;
RA   Cheng F.-B., Walter M., Wassouf Z., Hentrich T., Casadei N.,
RA   Schulze-Hentrich J.M., Barbuti P., Krueger R., Riess O.,
RA   Grundmann-Hauser K., Ott T.;
RT   "Unraveling molecular mechanisms of THAP1 missense mutations in DYT6
RT   dystonia.";
RL   J. Mol. Neurosci. 70:999-1008(2020).
//