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Cellosaurus GM28063 (CVCL_B3SE)

[Text version]
Cell line name GM28063
Accession CVCL_B3SE
Resource Identification Initiative To cite this cell line use: GM28063 (RRID:CVCL_B3SE)
Comments Population: Indian.
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.Asn178Glufs*9 (c.532_535delAATA); ClinVar=VCV000372719; Zygosity=Heterozygous (Coriell=GM28063).
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_D6WS (GM29132)
Sex of cell Male
Age at sampling 33Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28063
Encyclopedic resources Wikidata; Q110432830
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number6