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Cellosaurus GM28010 (CVCL_A2YP)

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Cell line name GM28010
Accession CVCL_A2YP
Resource Identification Initiative To cite this cell line use: GM28010 (RRID:CVCL_A2YP)
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.Leu105Ter (c.312_321del10insAT) (p.Pro104_Leu105insTer); ClinVar=VCV000215237; Zygosity=Heterozygous (Coriell=GM28010).
  • Mutation; HGNC; HGNC:11474; SURF1; Simple; p.Arg192Trp (c.574C>T); ClinVar=VCV000215235; Zygosity=Heterozygous (Coriell=GM28010).
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)
Hierarchy Children:
CVCL_C7P9 (GM28862)
Sex of cell Male
Age at sampling 8Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28010
Encyclopedic resources Wikidata; Q105507431
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number7