ID   GM23436
AC   CVCL_AY70
DR   Coriell; GM23436
DR   Wikidata; Q54853077
CC   Sequence variation: Mutation; HGNC; HGNC:746; ASL; Simple; p.Arg12Gln (c.35G>A); ClinVar=VCV000092360; Zygosity=Heterozygous (Coriell=GM23436).
CC   Sequence variation: Mutation; HGNC; HGNC:746; ASL; Simple; p.Gly280Glufs*4 (c.839delG); Zygosity=Heterozygous (Coriell=GM23436).
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   Female
AG   13Y
CA   Transformed cell line
DT   Created: 02-05-16; Last updated: 19-12-24; Version: 13
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