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Cellosaurus GM06127 (CVCL_7450)

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Cell line name GM06127
Accession CVCL_7450
Resource Identification Initiative To cite this cell line use: GM06127 (RRID:CVCL_7450)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:92; ACADVL; Simple; c.1078_1182del105 (c.1182+1G>A); Zygosity=Homozygous; Note=Splice donor mutation (Coriell=GM06127).
Disease Very long-chain acyl-CoA dehydrogenase deficiency (NCIt: C98647)
Very long chain acyl-CoA dehydrogenase deficiency (ORDO: Orphanet_26793)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 3M
Category Finite cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

Cross-references
Cell line collections (Providers) Coriell; GM06127
Cell line databases/resources CLO; CLO_0003533
CLO; CLO_0023661
CLDB; cl1500
Encyclopedic resources Wikidata; Q54842185
Entry history
Entry creation04-Apr-2012
Last entry update19-Dec-2024
Version number17