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Cellosaurus GM25291 (CVCL_HQ16)

[Text version]
Cell line name GM25291
Accession CVCL_HQ16
Resource Identification Initiative To cite this cell line use: GM25291 (RRID:CVCL_HQ16)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:11049; SLC6A3; Simple; p.Tyr470Ser (c.1408_1409delinsAG); ClinVar=VCV001404765; Zygosity=Homozygous (Coriell=GM25291).
Disease Dopamine transporter deficiency syndrome (NCIt: C129866)
Infantile dystonia-parkinsonism (ORDO: Orphanet_238455)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM25291
Encyclopedic resources Wikidata; Q54853866
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number10