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Cellosaurus GM28095 (CVCL_B0IR)

[Text version]
Cell line name GM28095
Accession CVCL_B0IR
Resource Identification Initiative To cite this cell line use: GM28095 (RRID:CVCL_B0IR)
Comments Population: Caucasian; Austrian.
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.Tyr133Asp (c.397T>G); Zygosity=Heterozygous (Coriell=GM28095).
  • Mutation; HGNC; HGNC:11474; SURF1; Simple; p.Arg192Profs*8 (c.574_575insCTGC); ClinVar=VCV000419973; Zygosity=Heterozygous (Coriell=GM28095).
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 4Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28095
Encyclopedic resources Wikidata; Q108820309
Entry history
Entry creation23-Sep-2021
Last entry update19-Dec-2024
Version number7