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Cellosaurus GM16753 (CVCL_0E71)

[Text version]
Cell line name GM16753
Accession CVCL_0E71
Resource Identification Initiative To cite this cell line use: GM16753 (RRID:CVCL_0E71)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:11067; SLC7A9; Simple; c.604+2T>C (789+2T-C); ClinVar=VCV000938724; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM16753).
  • Mutation; HGNC; HGNC:11067; SLC7A9; Simple; p.Thr389Met (c.1166C>T); ClinVar=VCV002138267; Zygosity=Heterozygous (Coriell=GM16753).
Disease Cystinuria (NCIt: C84664)
Cystinuria (ORDO: Orphanet_214)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 41Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM16753
Cell line databases/resources CLO; CLO_0018427
Encyclopedic resources Wikidata; Q54848722
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number16