ID   GM11110
AC   CVCL_9R88
DR   CLO; CLO_0023011
DR   Coriell; GM11110
DR   Wikidata; Q54844864
CC   Sequence variation: Mutation; HGNC; HGNC:8582; PAH; Simple; p.Tyr414Cys (c.1241A>G); ClinVar=VCV000000593; Zygosity=Heterozygous (Coriell=GM11110).
CC   Sequence variation: Mutation; HGNC; HGNC:8582; PAH; Simple; c.1315+1G>A (IVS12+1G>A); ClinVar=VCV000000576; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM11110).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C81315; Phenylketonuria
DI   ORDO; Orphanet_716; Phenylketonuria
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 14
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