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Cellosaurus GM27914 (CVCL_C7L5)

[Text version]
Cell line name GM27914
Accession CVCL_C7L5
Resource Identification Initiative To cite this cell line use: GM27914 (RRID:CVCL_C7L5)
Comments Population: Iranian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:28912; WDR45; Simple; p.Phe221Leufs*67 (c.660delC); Zygosity=Heterozygous (Coriell=GM27914).
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)
Sex of cell Female
Age at sampling 5Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM27914
Encyclopedic resources Wikidata; Q117704349
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number4