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Cellosaurus CG1254 (CVCL_LG73)

[Text version]
Cell line name CG1254
Accession CVCL_LG73
Resource Identification Initiative To cite this cell line use: CG1254 (RRID:CVCL_LG73)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:9752; QDPR; Simple; p.Thr233Pro (c.697A>C); Zygosity=Unspecified (BCRC=60467).
Disease Hyperphenylalaninemia, BH4-deficient C (NCIt: C138173)
Dihydropteridine reductase deficiency (ORDO: Orphanet_226)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 12Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) BCRC; 60467
Encyclopedic resources Wikidata; Q54811515
Entry history
Entry creation15-Nov-2017
Last entry update19-Dec-2024
Version number11