ID   GM16753
AC   CVCL_0E71
DR   CLO; CLO_0018427
DR   Coriell; GM16753
DR   Wikidata; Q54848722
CC   Sequence variation: Mutation; HGNC; HGNC:11067; SLC7A9; Simple; c.604+2T>C (789+2T-C); ClinVar=VCV000938724; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM16753).
CC   Sequence variation: Mutation; HGNC; HGNC:11067; SLC7A9; Simple; p.Thr389Met (c.1166C>T); ClinVar=VCV002138267; Zygosity=Heterozygous (Coriell=GM16753).
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   41Y
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 16
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