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Cellosaurus GM28231 (CVCL_D6X5)

[Text version]
Cell line name GM28231
Accession CVCL_D6X5
Resource Identification Initiative To cite this cell line use: GM28231 (RRID:CVCL_D6X5)
Comments Population: Chinese.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:28912; WDR45; Simple; p.Ser251del (c.746CCT[1]) (c.752_754delCCT); ClinVar=VCV000418542; Zygosity=Hemizygous (Coriell=GM28231).
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_D6X4 ! GM28219
Sex of cell Male
Age at sampling 2Y9M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28231
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2