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Cellosaurus GM27930 (CVCL_A9ZH)

[Text version]
Cell line name GM27930
Synonyms GM27930*B
Accession CVCL_A9ZH
Resource Identification Initiative To cite this cell line use: GM27930 (RRID:CVCL_A9ZH)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:28912; WDR45; Simple; c.726-1G>A (c.729-1G>A) (IVS9-1G>A); ClinVar=VCV001803675; Zygosity=Heterozygous; Note=De novo mutation. Splice acceptor mutation (Coriell=GM27930).
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)
Hierarchy Parent: CVCL_A2SP (GM27869)
Sex of cell Female
Age at sampling 6Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM27930
Encyclopedic resources Wikidata; Q102113947
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number7