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Cellosaurus CG1164 (CVCL_LG69)

[Text version]
Cell line name CG1164
Accession CVCL_LG69
Resource Identification Initiative To cite this cell line use: CG1164 (RRID:CVCL_LG69)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:9689; PTS; Simple; p.Asn52Ser (c.155A>G); ClinVar=VCV000000479; Zygosity=Heterozygous (BCRC=60463).
  • Mutation; HGNC; HGNC:9689; PTS; Simple; p.Pro87Ser (c.259C>T); ClinVar=VCV000000480; Zygosity=Heterozygous (BCRC=60463).
Disease Hyperphenylalaninemia, BH4-deficient A (NCIt: C138171)
6-pyruvoyl-tetrahydropterin synthase deficiency (ORDO: Orphanet_13)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) BCRC; 60463
Encyclopedic resources Wikidata; Q54811511
Entry history
Entry creation15-Nov-2017
Last entry update19-Dec-2024
Version number12