ID   GM23809
AC   CVCL_5M36
DR   Coriell; GM23809
DR   Wikidata; Q54853323
CC   Sequence variation: Mutation; HGNC; HGNC:758; ASS1; Simple; p.Arg344Ter (c.1030C>T); ClinVar=VCV000188885; Zygosity=Heterozygous (Coriell=GM23809).
CC   Sequence variation: Mutation; HGNC; HGNC:758; ASS1; Simple; p.Arg363Trp (c.1087C>T); ClinVar=VCV000006328; Zygosity=Heterozygous (Coriell=GM23809).
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   7Y
CA   Transformed cell line
DT   Created: 14-12-15; Last updated: 19-12-24; Version: 14
//