Cellosaurus logo
expasy logo

Cellosaurus GM28072 (CVCL_D6X2)

[Text version]
Cell line name GM28072
Accession CVCL_D6X2
Resource Identification Initiative To cite this cell line use: GM28072 (RRID:CVCL_D6X2)
Comments Population: Caucasian; Polish.
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.Ser282Cysfs*9 (c.841_842CT[2]) (c.845_846delCT); ClinVar=VCV000012770; Zygosity=Homozygous (Coriell=GM28072).
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 9Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28072
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2