ID   GM26185
AC   CVCL_RU03
DR   Coriell; GM26185
DR   Wikidata; Q54854085
CC   Sequence variation: Mutation; HGNC; HGNC:10983; SLC25A13; Simple; p.Met285Profs*2 (c.852_855delTATG) (c.851_854delGTAT); ClinVar=VCV000225472; Zygosity=Heterozygous (Coriell=GM26185).
CC   Sequence variation: Mutation; HGNC; HGNC:10983; SLC25A13; Simple; p.Ala554Glyfs*16 (c.1638_1660dup23); ClinVar=VCV000006003; Zygosity=Heterozygous (Coriell=GM26185).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C150603; Citrullinemia type II
DI   ORDO; Orphanet_247585; Citrullinemia type II
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   10Y
CA   Transformed cell line
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 11
//