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Cellosaurus GM28284 (CVCL_C0LH)

[Text version]
Cell line name GM28284
Accession CVCL_C0LH
Resource Identification Initiative To cite this cell line use: GM28284 (RRID:CVCL_C0LH)
Comments Population: Caucasian; German/Irish.
Derived from site: In situ; Back, skin; UBERON=UBERON_0001068.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:28912; WDR45; Simple; p.Gly163Ter (c.487G>T); ClinVar=VCV000504345; Zygosity=Heterozygous (Coriell=GM28284).
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 7Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28284
Encyclopedic resources Wikidata; Q112929596
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number6