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Cellosaurus SK-N-AS THAP1 L180S clone 8 (CVCL_E5VD)

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Cell line name SK-N-AS THAP1 L180S clone 8
Accession CVCL_E5VD
Resource Identification Initiative To cite this cell line use: SK-N-AS THAP1 L180S clone 8 (RRID:CVCL_E5VD)
Comments Population: Caucasian.
Genetic integration: Method=Transfection; Gene=HGNC; HGNC:20856; THAP1 (Note=With p.Leu180Ser).
Genetic integration: Method=Transfection; Gene=UniProtKB; P00552; Klebsiella pneumoniae transposon Tn5 neo.
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
Fu-Bo Cheng, Michael Walter, Zinah Wassouf, Thomas Hentrich, Nicolas Casadei, Julia Maria Schulze-Hentrich, Peter Antony Barbuti, Rejko Kruger, Olaf Riess, Kathrin Grundmann-Hauser, Thomas Ott;
Unraveling molecular mechanisms of THAP1 missense mutations in DYT6 dystonia.
J. Mol. Neurosci. 70:999-1008(2020)

Cross-references
Cell line collections (Providers) ABM; T3308
Entry history
Entry creation10-Apr-2025
Last entry update14-Aug-2025
Version number2