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Cellosaurus GM28013 (CVCL_A2YS)

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Cell line name GM28013
Accession CVCL_A2YS
Resource Identification Initiative To cite this cell line use: GM28013 (RRID:CVCL_A2YS)
Comments Population: Indian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7414; MT-ATP6; Simple; p.Ile143Val (m.8953A>G); ClinVar=VCV000693034; Zygosity=Homoplasmic (Coriell=GM28013).
  • Mutation; HGNC; HGNC:11474; SURF1; Simple; p.Gln251Ter (c.751C>T); ClinVar=VCV000012762; Zygosity=Heterozygous (Coriell=GM28013).
  • Mutation; HGNC; HGNC:11474; SURF1; Simple; p.Thr266Asnfs*26 (c.796dupA); ClinVar=VCV000524066; Zygosity=Heterozygous (Coriell=GM28013).
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 Female
Age at sampling 4Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28013
Encyclopedic resources Wikidata; Q105507442
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number7