ID   GM23851
AC   CVCL_5M25
DR   Coriell; GM23851
DR   Wikidata; Q54853375
CC   Sequence variation: Mutation; HGNC; HGNC:758; ASS1; Simple; p.Val269Met (c.805G>A); ClinVar=VCV000193968; Zygosity=Heterozygous (Coriell=GM23851).
CC   Sequence variation: Mutation; HGNC; HGNC:758; ASS1; Simple; p.Arg272Cys (c.814C>T); ClinVar=VCV000371132; Zygosity=Heterozygous (Coriell=GM23851).
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   1Y
CA   Transformed cell line
DT   Created: 14-12-15; Last updated: 19-12-24; Version: 14
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