Cellosaurus logo
expasy logo

Cellosaurus GM28286 (CVCL_C0LJ)

[Text version]
Cell line name GM28286
Accession CVCL_C0LJ
Resource Identification Initiative To cite this cell line use: GM28286 (RRID:CVCL_C0LJ)
Comments Population: Asian and Caucasian; Greek.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:28912; WDR45; Simple; p.Gln18Ter (c.52C>T); ClinVar=VCV000620358; Zygosity=Heterozygous (Coriell=GM28286).
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_C0LI ! GM28285
Sex of cell Female
Age at sampling 5Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28286
Encyclopedic resources Wikidata; Q112929598
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number6