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Cellosaurus GM01763 (CVCL_L960)

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Cell line name GM01763
Synonyms GM-1763; GM00249
Accession CVCL_L960
Resource Identification Initiative To cite this cell line use: GM01763 (RRID:CVCL_L960)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:2330; CPT2; Simple; p.Ser113Leu (c.439C>T); ClinVar=VCV000008953; Zygosity=Homozygous (Coriell=GM01763).
Disease Carnitine palmitoyltransferase II deficiency (NCIt: C114766)
Carnitine palmitoyltransferase II deficiency (ORDO: Orphanet_157)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 29Y
Category Finite cell line
Publications

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977)

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; GM00249 - Discontinued
Coriell; GM01763
Cell line databases/resources CLO; CLO_0031007
Biological sample resources BioSample; SAMN00807145
Encyclopedic resources Wikidata; Q54837062
Entry history
Entry creation06-May-2013
Last entry update19-Dec-2024
Version number18