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Cellosaurus GM13275 (CVCL_4F71)

[Text version]
Cell line name GM13275
Accession CVCL_4F71
Resource Identification Initiative To cite this cell line use: GM13275 (RRID:CVCL_4F71)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:89; ACADM; Simple; p.Lys329Glu (c.985A>G); ClinVar=VCV000003586; Zygosity=Homozygous (Coriell=GM13275).
Disease Medium-chain acyl-CoA dehydrogenase deficiency (NCIt: C84538)
Medium chain acyl-CoA dehydrogenase deficiency (ORDO: Orphanet_42)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 8M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM13275
Cell line databases/resources CLO; CLO_0013288
Biological sample resources BioSample; SAMN00802242
Encyclopedic resources Wikidata; Q54846414
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number12