ID   GM16500
AC   CVCL_0E70
DR   CLO; CLO_0017485
DR   Coriell; GM16500
DR   Wikidata; Q54848613
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11025; SLC3A1; Simple; p.Met467Thr (c.1400T>C); ClinVar=VCV000018115; Zygosity=Heterozygous (Coriell=GM16500).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84664; Cystinuria
DI   ORDO; Orphanet_214; Cystinuria
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   49Y
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 14
//