ID   GM27578
AC   CVCL_YE53
SY   GM27578*B
DR   Coriell; GM27578
DR   Wikidata; Q93933254
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 8582; PAH; Simple; p.Phe299Cys (c.896T>G); ClinVar=VCV000000613; Zygosity=Heterozygous (Coriell=GM27578).
CC   Sequence variation: Mutation; HGNC; 8582; PAH; Simple; p.Arg408Trp (c.1222C>T); ClinVar=VCV000000577; Zygosity=Heterozygous (Coriell=GM27578).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C81315; Phenylketonuria
DI   ORDO; Orphanet_716; Phenylketonuria
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_W148 ! GM02406
SX   Male
AG   2M
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 30-01-24; Version: 11
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