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Cellosaurus SH-SY5Y-HFE H63D (CVCL_5I54)

[Text version]
Cell line name SH-SY5Y-HFE H63D
Accession CVCL_5I54
Resource Identification Initiative To cite this cell line use: SH-SY5Y-HFE H63D (RRID:CVCL_5I54)
Comments Population: Caucasian.
Transfected with: HGNC; 4886; HFE (with p.His63Asp).
Derived from site: Metastatic; Bone marrow; UBERON=UBERON_0002371.
Sequence variations
  • Mutation; HGNC; 427; ALK; Simple; p.Phe1174Leu (c.3522C>A); ClinVar=VCV000217852; Zygosity=Unspecified (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=17194693; DOI=10.1096/fj.06-6397com
Lee S.Y., Patton S.M., Henderson R.J., Connor J.R.
Consequences of expressing mutants of the hemochromatosis gene (HFE) into a human neuronal cell line lacking endogenous HFE.
FASEB J. 21:564-576(2007)

Cross-references
Cell line collections (Providers) Kerafast; EQ1002
Cell line databases/resources cancercelllines; CVCL_5I54
Encyclopedic resources Wikidata; Q54953227
Entry history
Entry creation14-Dec-2015
Last entry update05-Oct-2023
Version number13