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Cellosaurus GM28012 (CVCL_A2YR)

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Cell line name GM28012
Accession CVCL_A2YR
Resource Identification Initiative To cite this cell line use: GM28012 (RRID:CVCL_A2YR)
Comments 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.Leu105Ter (c.312_321del10insAT) (p.Pro104_Leu105insTer); ClinVar=VCV000215237; Zygosity=Heterozygous (Coriell=GM28012).
  • Mutation; HGNC; HGNC:11474; SURF1; Simple; p.Arg192Profs*8 (c.574_575insCTGC); ClinVar=VCV000419973; Zygosity=Heterozygous (Coriell=GM28012).
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; GM28012
Encyclopedic resources Wikidata; Q105507438
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number7