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Cellosaurus GM28016 (CVCL_A2YU)

[Text version]
Cell line name GM28016
Accession CVCL_A2YU
Resource Identification Initiative To cite this cell line use: GM28016 (RRID:CVCL_A2YU)
Comments Population: Caucasian; German.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11474; SURF1; Simple; p.Gly124Arg (c.370G>A); dbSNP=rs782033035; Zygosity=Heterozygous (Coriell=GM28016).
  • Mutation; HGNC; HGNC:11474; SURF1; Simple; c.751+1G>A; ClinVar=VCV002081237; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM28016).
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 2Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28016
Encyclopedic resources Wikidata; Q105507450
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number7