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Cellosaurus GM27869 (CVCL_A2SP)

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Cell line name GM27869
Accession CVCL_A2SP
Resource Identification Initiative To cite this cell line use: GM27869 (RRID:CVCL_A2SP)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:28912; WDR45; Simple; c.726-1G>A (c.729-1G>A) (IVS9-1G>A); ClinVar=VCV001803675; Zygosity=Heterozygous; Note=De novo mutation. Splice acceptor mutation (Coriell=GM27869).
Disease Neurodegeneration with brain iron accumulation 5 (NCIt: C175210)
Beta-propeller protein-associated neurodegeneration (ORDO: Orphanet_329284)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_A9ZH (GM27930)
Sex of cell Female
Age at sampling 6Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27869
Encyclopedic resources Wikidata; Q105507362
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number6