ID   GM29475
AC   CVCL_F0ZE
DR   Coriell; GM29475
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:746; ASL; Simple; p.Val178Met (c.532G>A); ClinVar=VCV000002402; Zygosity=Heterozygous (Coriell=GM29475).
CC   Sequence variation: Mutation; HGNC; HGNC:746; ASL; Simple; p.Arg193Gln (c.578G>A); ClinVar=VCV000372306; Zygosity=Heterozygous (Coriell=GM29475).
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)
HI   CVCL_A2WA ! GM26179
SX   Female
AG   15Y
CA   Induced pluripotent stem cell
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
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