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Cellosaurus GM28333 (CVCL_C0LN)

[Text version]
Cell line name GM28333
Accession CVCL_C0LN
Resource Identification Initiative To cite this cell line use: GM28333 (RRID:CVCL_C0LN)
Comments Population: Caucasian; Finnish/German.
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; p.Ala79Thr (c.235G>A); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28333).
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)
Originate from same individual CVCL_C0LM ! GM28332
Sex of cell Female
Age at sampling 6Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28333
Encyclopedic resources Wikidata; Q112929601
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number6