ID   GM23879
AC   CVCL_5M38
DR   Coriell; GM23879
DR   Wikidata; Q54853414
CC   Sequence variation: Mutation; HGNC; HGNC:758; ASS1; Simple; p.Thr389Ile (c.1166C>T); ClinVar=VCV000645842; Zygosity=Heterozygous (Coriell=GM23879).
CC   Sequence variation: Mutation; HGNC; HGNC:758; ASS1; Simple; p.Gly390Arg (c.1168G>A); ClinVar=VCV000006329; Zygosity=Heterozygous (Coriell=GM23879).
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   3Y
CA   Transformed cell line
DT   Created: 14-12-15; Last updated: 19-12-24; Version: 14
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