ID   GM23641
AC   CVCL_AY78
DR   Coriell; GM23641
DR   Wikidata; Q54853178
CC   Sequence variation: Mutation; HGNC; HGNC:746; ASL; Simple; p.Val178Met (c.532G>A); ClinVar=VCV000002402; Zygosity=Heterozygous (Coriell=GM23641).
CC   Sequence variation: Mutation; HGNC; HGNC:746; ASL; Simple; p.Met256Thr (c.767T>C); ClinVar=VCV002066939; Zygosity=Heterozygous (Coriell=GM23641).
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   3Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 13
//