ID   SH-SY5Y-HFE C282Y
AC   CVCL_5I53
DR   cancercelllines; CVCL_5I53
DR   Kerafast; EQ1003
DR   Wikidata; Q54953226
RX   PubMed=17194693;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:427; ALK; Simple; p.Phe1174Leu (c.3522C>A); ClinVar=VCV000217852; Zygosity=Unspecified (from parent cell line).
CC   Genetic integration: Method=Transfection; Gene=HGNC; HGNC:4886; HFE (Note=With p.Cys282Tyr (c.845G>A) and a FLAG tag).
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_0019 ! SH-SY5Y
SX   Female
AG   4Y
CA   Cancer cell line
DT   Created: 14-12-15; Last updated: 19-12-24; Version: 15
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RX   PubMed=17194693; DOI=10.1096/fj.06-6397com;
RA   Lee, Sang Yong
RA   Patton, Stephanie M.
RA   Henderson, Rebecca J.
RA   Connor, James R.
RT   "Consequences of expressing mutants of the hemochromatosis gene (HFE)
RT   into a human neuronal cell line lacking endogenous HFE.";
RL   FASEB J. 21:564-576(2007).
//