ID   GM09217
AC   CVCL_AA70
DR   CLO; CLO_0010684
DR   BioSample; SAMN00798589
DR   Coriell; GM09217
DR   Wikidata; Q54843619
CC   Sequence variation: Mutation; HGNC; HGNC:12530; UGT1A1; Simple; p.Ser375Phe (c.1124C>T) (p.Ser374Phe, c.1121C>T) (S376F); ClinVar=VCV000012267; Zygosity=Homozygous (Coriell=GM09217).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84656; Crigler-Najjar syndrome
DI   ORDO; Orphanet_205; Crigler-Najjar syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   7Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 13
//