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Cellosaurus GM07523 (CVCL_4F55)

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Cell line name GM07523
Accession CVCL_4F55
Resource Identification Initiative To cite this cell line use: GM07523 (RRID:CVCL_4F55)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:89; ACADM; Simple; p.Lys329Glu (c.985A>G); ClinVar=VCV000003586; Zygosity=Homozygous (Coriell=GM07523).
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)
Originate from same individual CVCL_4F53 ! GM06125
Sex of cell Female
Age at sampling 17Y
Category Transformed 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; GM07523
Cell line databases/resources CLO; CLO_0016440
Encyclopedic resources Wikidata; Q54842823
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number15