Cellosaurus logo
expasy logo

Cellosaurus GM17476 (CVCL_IN34)

[Text version]
Cell line name GM17476
Accession CVCL_IN34
Resource Identification Initiative To cite this cell line use: GM17476 (RRID:CVCL_IN34)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:87; ACAD8; Simple; p.Arg302Gln (c.905G>A); ClinVar=VCV000005359; Zygosity=Homozygous (Coriell=GM17476).
Disease Isobutyryl-CoA dehydrogenase deficiency (NCIt: C129975)
Isobutyryl-CoA dehydrogenase deficiency (ORDO: Orphanet_79159)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 2Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM17476
Cell line databases/resources CLO; CLO_0012935
Encyclopedic resources Wikidata; Q54848912
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number13