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Cellosaurus GM12212 (CVCL_5M50)

[Text version]
Cell line name GM12212
Accession CVCL_5M50
Resource Identification Initiative To cite this cell line use: GM12212 (RRID:CVCL_5M50)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:8806; PDHA1; Simple; p.Arg263Gly (c.787C>G); ClinVar=VCV000010878; Zygosity=Hemizygous (Coriell=GM12212).
Disease Pyruvate dehydrogenase deficiency (NCIt: C103968)
Pyruvate dehydrogenase E1-alpha deficiency (ORDO: Orphanet_79243)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 3Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM12212
Cell line databases/resources CLO; CLO_0019168
Encyclopedic resources Wikidata; Q54845592
Entry history
Entry creation14-Dec-2015
Last entry update19-Dec-2024
Version number12