Cellosaurus logo
expasy logo

Cellosaurus GM26035 (CVCL_D2ZC)

[Text version]
Cell line name GM26035
Accession CVCL_D2ZC
Resource Identification Initiative To cite this cell line use: GM26035 (RRID:CVCL_D2ZC)
Comments Population: Mexican.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:27302; IBA57; Simple; p.Arg197Trp (c.589C>T); ClinVar=VCV000521722; Zygosity=Heterozygous (Coriell=GM26035).
  • Mutation; HGNC; HGNC:27302; IBA57; Simple; p.Pro236Ala (c.706C>G); ClinVar=VCV000521723; Zygosity=Heterozygous (Coriell=GM26035).
Disease Multiple mitochondrial dysfunctions syndrome type 3 (NCIt: C202608)
Multiple mitochondrial dysfunctions syndrome type 3 (ORDO: Orphanet_363424)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 9Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM26035
Encyclopedic resources Wikidata; Q127380902
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3