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Cellosaurus GM07843 (CVCL_CW81)

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Cell line name GM07843
Accession CVCL_CW81
Resource Identification Initiative To cite this cell line use: GM07843 (RRID:CVCL_CW81)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:4801; HADHA; Simple; p.Glu510Gln (c.1528G>C); ClinVar=VCV000100085; Zygosity=Homozygous (Coriell=GM07843).
Disease Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (NCIt: C129929)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (ORDO: Orphanet_5)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 10M
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; GM07843
Cell line databases/resources CLO; CLO_0010258
Encyclopedic resources Wikidata; Q54842957
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number14