ID   GM24028
AC   CVCL_AE11
DR   Coriell; GM24028
DR   Wikidata; Q54853496
CC   Sequence variation: Mutation; HGNC; HGNC:746; ASL; Simple; p.Asp120Glu (c.360C>A); Zygosity=Heterozygous (Coriell=GM24028).
CC   Sequence variation: Mutation; HGNC; HGNC:746; ASL; Simple; p.Arg217Ter (c.649C>T); ClinVar=VCV000203615; Zygosity=Heterozygous (Coriell=GM24028).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84569; Argininosuccinic aciduria
DI   ORDO; Orphanet_23; Argininosuccinic aciduria
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 13
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