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Cellosaurus GM17482 (CVCL_CV44)

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Cell line name GM17482
Accession CVCL_CV44
Resource Identification Initiative To cite this cell line use: GM17482 (RRID:CVCL_CV44)
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=Heterozygous (Coriell=GM17482).
  • Mutation; HGNC; HGNC:4803; HADHB; Simple; p.Arg247His (c.740G>A); ClinVar=VCV000014846; Zygosity=Heterozygous (Coriell=GM17482).
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 13Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM17482
Cell line databases/resources CLO; CLO_0013015
Encyclopedic resources Wikidata; Q54848916
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number14