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Cellosaurus GM28054 (CVCL_B0IJ)

[Text version]
Cell line name GM28054
Accession CVCL_B0IJ
Resource Identification Initiative To cite this cell line use: GM28054 (RRID:CVCL_B0IJ)
Comments Population: Caucasian/Russian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11474; SURF1; Simple; p.Gly195Asp (c.584G>A); ClinVar=VCV002413125; Zygosity=Heterozygous (Coriell=GM28054).
  • Mutation; HGNC; HGNC:11474; SURF1; Simple; p.Ser282Cysfs*9 (c.841_842CT[2]) (c.845_846delCT); ClinVar=VCV000012770; Zygosity=Heterozygous (Coriell=GM28054).
Disease Leigh disease (NCIt: C84814)
Mitochondrial complex IV deficiency, nuclear type 1 (NCIt: C176895)
Leigh syndrome (ORDO: Orphanet_506)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 4Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28054
Encyclopedic resources Wikidata; Q108820303
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number8