ID   LB45
AC   CVCL_B0GY
DR   Wikidata; Q108820671
RX   PubMed=10397714;
CC   Doubling time: 32.5 hours (PubMed=10397714).
CC   Sequence variation: Mutation; HGNC; HGNC:12591; UROD; Simple; p.Gly281Glu (c.842G>A); ClinVar=VCV000000066; Zygosity=Homozygous (PubMed=10397714).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84754; Hepatoerythropoietic porphyria
DI   ORDO; Orphanet_95159; Hepatoerythropoietic porphyria
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Sex unspecified
AG   Age unspecified
CA   Transformed cell line
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 5
//
RX   PubMed=10397714; DOI=10.1182/blood.V94.2.465;
RA   Fontanellas A., Mazurier F., Moreau-Gaudry F., Belloc F., Ged C.,
RA   de Verneuil H.;
RT   "Correction of uroporphyrinogen decarboxylase deficiency
RT   (hepatoerythropoietic porphyria) in Epstein-Barr virus-transformed
RT   B-cell lines by retrovirus-mediated gene transfer: fluorescence-based
RT   selection of transduced cells.";
RL   Blood 94:465-474(1999).
//