ID   GM11196
AC   CVCL_9R91
DR   CLO; CLO_0022986
DR   Coriell; GM11196
DR   Wikidata; Q54844903
CC   Sequence variation: Mutation; HGNC; HGNC:8582; PAH; Simple; p.Ser196_Leu197insTer (p.Leu197Terfs) (c.590_612del23); ClinVar=VCV000102745; Zygosity=Heterozygous (from familial inference of GM11195).
CC   Sequence variation: Mutation; HGNC; HGNC:8582; PAH; Simple; c.912+1G>A (IVS8+1G>A); ClinVar=VCV000092752; Zygosity=Heterozygous; Note=Splice donor mutation (from familial inference of GM11195).
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   6Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 12
//