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Cellosaurus GM22229 (CVCL_DB14)

[Text version]
Cell line name GM22229
Accession CVCL_DB14
Resource Identification Initiative To cite this cell line use: GM22229 (RRID:CVCL_DB14)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Arg978Cys (c.2932C>T); ClinVar=VCV000002976; Zygosity=Heterozygous (Coriell=GM22229).
  • Mutation; HGNC; HGNC:7897; NPC1; Unexplicit; IVS21-2A>G; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM22229).
Disease Niemann-Pick disease, type C1 (NCIt: C126864)
Niemann-Pick disease type C (ORDO: Orphanet_646)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 7Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM22229
Encyclopedic resources Wikidata; Q54852440
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number13