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Cellosaurus GM23154 (CVCL_DB20)

[Text version]
Cell line name GM23154
Accession CVCL_DB20
Resource Identification Initiative To cite this cell line use: GM23154 (RRID:CVCL_DB20)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[196]; ClinVar=VCV000561195; Zygosity=Heterozygous (Coriell=GM23154).
  • Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Arg404Gln (c.1211G>A); ClinVar=VCV000188794; Zygosity=Heterozygous (Coriell=GM23154).
  • Mutation; HGNC; HGNC:7897; NPC1; Simple; p.Pro1007Ala (c.3019C>G); ClinVar=VCV000002966; Zygosity=Heterozygous (Coriell=GM23154).
Disease Friedreich ataxia (NCIt: C84718)
Niemann-Pick disease, type C1 (NCIt: C126864)
Friedreich ataxia (ORDO: Orphanet_95)
Niemann-Pick disease type C (ORDO: Orphanet_646)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 12Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM23154
Encyclopedic resources Wikidata; Q54852910
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number12