ID   GM25134
AC   CVCL_A5PB
DR   Coriell; GM25134
DR   Wikidata; Q107115163
CC   Sequence variation: Mutation; HGNC; HGNC:758; ASS1; Simple; p.Gly156Asp (c.467G>A); Zygosity=Homozygous (Coriell=GM25134).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C150601; Citrullinemia type I
DI   ORDO; Orphanet_247525; Citrullinemia type I
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Transformed cell line
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 6
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