ID   GM12604
AC   CVCL_Y706
DR   CLO; CLO_0018077
DR   Coriell; GM12604
DR   Wikidata; Q54845894
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:8512; OTC; Simple; p.Asp175Val (c.524A>T); ClinVar=VCV000097233; Zygosity=Heterozygous (Coriell=GM12604).
CC   Derived from site: In situ; Liver; UBERON=UBERON_0002107.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C84957; Ornithine carbamoyltransferase deficiency disease
DI   ORDO; Orphanet_664; Ornithine transcarbamylase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   7Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 13
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