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Cellosaurus SH-SY5Y TSC1 +/- (CVCL_E9DD)

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Cell line name SH-SY5Y TSC1 +/-
Synonyms TSC1 +/- SH-SY5Y
Accession CVCL_E9DD
Resource Identification Initiative To cite this cell line use: SH-SY5Y TSC1 +/- (RRID:CVCL_E9DD)
Comments Population: Caucasian.
Knockout cell: Method=CRISPR/Cas9; HGNC; HGNC:12362; TSC1 (Note=1 of 2 alleles).
Derived from site: Metastatic; Bone marrow; UBERON=UBERON_0002371.
Sequence variations
  • Mutation; HGNC; HGNC:427; ALK; Simple; p.Phe1174Leu (c.3522C>A); ClinVar=VCV000217852; 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_0019 (SH-SY5Y)
Sex of cell Female
Age at sampling 4Y
Category Cancer cell line
Publications

PubMed=28828560; DOI=10.1007/s00401-017-1764-0; PMCID=PMC5645431
Nicholas Thompson Olney, Carolina Alquezar, Eliana Marisa Ramos, Alissa Li Nana, Jamie Caroline Fong, Anna M. Karydas, Joanne B. Taylor, Melanie L. Stephens, Andrea Rose Argouarch, Victoria A. Van Berlo, Deepika R. Dokuru ...Show all 20 authors... , Elliott H. Sherr, Gregory A. Jicha, William P. Dillon Jr., Rahul S. Desikan, Mary Genevieve De May, William W. Seeley, Giovanni Coppola, Bruce Lars Miller, Aimee Wen-Yi Kao; Show fewer authors
Linking tuberous sclerosis complex, excessive mTOR signaling, and age-related neurodegeneration: a new association between TSC1 mutation and frontotemporal dementia.
Acta Neuropathol. 134:813-816(2017)

Entry history
Entry creation14-Aug-2025
Last entry update14-Aug-2025
Version number1