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Cellosaurus GM20265 (CVCL_CV47)

[Text version]
Cell line name GM20265
Accession CVCL_CV47
Resource Identification Initiative To cite this cell line use: GM20265 (RRID:CVCL_CV47)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4803; HADHB; Simple; p.Arg61His (c.182G>A) (R28H); ClinVar=VCV000014845; Zygosity=Homozygous (Coriell=GM20265).
Disease Mitochondrial trifunctional protein deficiency (NCIt: C98991)
Mitochondrial trifunctional protein deficiency (ORDO: Orphanet_746)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 4W
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM20265
Cell line databases/resources CLO; CLO_0027834
Encyclopedic resources Wikidata; Q54850876
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number12