ID   IMFE1
AC   CVCL_VN61
SY   IMmortalized Fabry Endothelial cell line-1
DR   Wikidata; Q94316176
RX   PubMed=17644384;
CC   Doubling time: 33.6 hours (PubMed=17644384).
CC   Sequence variation: Mutation; HGNC; HGNC:4296; GLA; Simple; p.Arg112His (c.335G>A); ClinVar=VCV000195028; Zygosity=Unspecified (PubMed=17644384).
CC   Genetic integration: Method=Transduction; Gene=HGNC; HGNC:11730; TERT.
CC   Genetic integration: Method=Transduction; Gene=UniProtKB; P13249; S.alboniger pac (PuroR).
CC   Derived from site: In situ; Forearm, skin; UBERON=UBERON_0003403.
CC   Cell type: Microvascular endothelial cell; CL=CL_2000008.
DI   NCIt; C84701; Fabry disease
DI   ORDO; Orphanet_324; Fabry disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
AG   Age unspecified
CA   Telomerase immortalized cell line
DT   Created: 07-09-18; Last updated: 19-12-24; Version: 10
//
RX   PubMed=17644384; DOI=10.1016/j.ymgme.2007.06.003; PMCID=PMC2063578;
RA   Shen J.-S., Meng X.-L., Schiffmann R., Brady R.O., Kaneski C.R.;
RT   "Establishment and characterization of Fabry disease endothelial cells
RT   with an extended lifespan.";
RL   Mol. Genet. Metab. 92:137-144(2007).
//