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Cellosaurus GM28034 (CVCL_B0I3)

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Cell line name GM28034
Accession CVCL_B0I3
Resource Identification Initiative To cite this cell line use: GM28034 (RRID:CVCL_B0I3)
Comments Population: Caucasian.
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.Trp278Ter (c.834G>A); ClinVar=VCV000928763; Zygosity=Heterozygous (Coriell=GM28034).
  • Mutation; HGNC; HGNC:11474; SURF1; Simple; p.Ser282Cysfs*9 (c.841_842CT[2]) (c.845_846delCT); ClinVar=VCV000012770; Zygosity=Heterozygous (Coriell=GM28034).
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 5Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28034
Encyclopedic resources Wikidata; Q108820299
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number7