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Cellosaurus GM04368 (CVCL_4N43)

[Text version]
Cell line name GM04368
Accession CVCL_4N43
Resource Identification Initiative To cite this cell line use: GM04368 (RRID:CVCL_4N43)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:7459; MT-ND4; Simple; p.Arg340His (m.11778G>A); ClinVar=VCV000009708; Zygosity=Unspecified (Coriell=GM04368).
Disease Kearns-Sayre syndrome (NCIt: C84798)
Kearns-Sayre syndrome (ORDO: Orphanet_480)
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; GM04368
Cell line databases/resources CLO; CLO_0019307
Encyclopedic resources Wikidata; Q54838500
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number13