Cellosaurus logo
expasy logo

Cellosaurus GM11319 (CVCL_4F62)

[Text version]
Cell line name GM11319
Accession CVCL_4F62
Resource Identification Initiative To cite this cell line use: GM11319 (RRID:CVCL_4F62)
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.Ala56Pro (c.166G>C); Zygosity=Homozygous (Coriell=GM11319).
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 2Y
Category Transformed cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
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; GM11319
Cell line databases/resources CLO; CLO_0026053
Encyclopedic resources Wikidata; Q54845003
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number14