ID   GM09551
AC   CVCL_AA80
DR   CLO; CLO_0011420
DR   Coriell; GM09551
DR   Wikidata; Q54843842
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; HGNC:12530; UGT1A1; Simple; p.Tyr293Metfs*69 (c.877_890delTACATTAATGCTTCinsA) (p.Tyr292Metfs, c.874_887delTACATTAATGCTTCinsA) (879 del 13); ClinVar=VCV000012266; Zygosity=Homozygous (Coriell=GM09551).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84656; Crigler-Najjar syndrome
DI   ORDO; Orphanet_205; Crigler-Najjar syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2M
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 13
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