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Cellosaurus SK-N-AS THAP1 S21T clone 9 (CVCL_E5VE)

[Text version]
Cell line name SK-N-AS THAP1 S21T clone 9
Accession CVCL_E5VE
Resource Identification Initiative To cite this cell line use: SK-N-AS THAP1 S21T clone 9 (RRID:CVCL_E5VE)
Comments Population: Caucasian.
Genetic integration: Method=Transfection; Gene=HGNC; HGNC:20856; THAP1 (Note=With p.Ser21Thr).
Genetic integration: Method=Transfection; Gene=UniProtKB; P00552; Transposon Tn5 neo.
Omics: Transcriptomics; Microarray.
Derived from site: Metastatic; Bone marrow; UBERON=UBERON_0002371.
Sequence variations
  • Mutation; HGNC; HGNC:7989; NRAS; Simple; p.Gln61Lys (c.181C>A); ClinVar=VCV000073058; Zygosity=Heterozygous (from parent cell line).
Disease Neuroblastoma (NCIt: C3270)
Neuroblastoma (ORDO: Orphanet_635)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_1700 (SK-N-AS)
Sex of cell Female
Age at sampling 6Y
Category Cancer cell line
Publications

PubMed=32112337; DOI=10.1007/s12031-020-01490-2; PMCID=PMC7334247
Cheng F.-B., Walter M., Wassouf Z., Hentrich T., Casadei N., Schulze-Hentrich J.M., Barbuti P., Krueger R., Riess O., Grundmann-Hauser K., Ott T.
Unraveling molecular mechanisms of THAP1 missense mutations in DYT6 dystonia.
J. Mol. Neurosci. 70:999-1008(2020)

Cross-references
Cell line collections (Providers) ABM; T3306
Entry history
Entry creation10-Apr-2025
Last entry update10-Apr-2025
Version number1