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Cellosaurus GM17477 (CVCL_IM21)

[Text version]
Cell line name GM17477
Accession CVCL_IM21
Resource Identification Initiative To cite this cell line use: GM17477 (RRID:CVCL_IM21)
Comments Population: Chinese/Asian ethnic group; Hmong.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:91; ACADSB; Simple; p.Met389Val (c.1165A>G); ClinVar=VCV000664690; Zygosity=Homozygous (Coriell=GM17477).
Disease Butyryl-CoA dehydrogenase deficiency (NCIt: C98863)
2-methylbutyryl-CoA dehydrogenase deficiency (ORDO: Orphanet_79157)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 3W
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM17477
Cell line databases/resources CLO; CLO_0012934
Encyclopedic resources Wikidata; Q54848913
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number13