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Cellosaurus GM27954 (CVCL_C7LB)

[Text version]
Cell line name GM27954
Accession CVCL_C7LB
Resource Identification Initiative To cite this cell line use: GM27954 (RRID:CVCL_C7LB)
Comments Population: Latino or Hispanic.
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.Tyr335Cysfs*5 (c.1004_1005delAT (p.Tyr336Cysfs*5, c.1007_1008delAT); ClinVar=VCV000041911; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM27954).
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; GM27954
Encyclopedic resources Wikidata; Q117704354
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number4