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Cellosaurus GM01460 (CVCL_4N16)

[Text version]
Cell line name GM01460
Synonyms GM-1460; GM01460A
Accession CVCL_4N16
Resource Identification Initiative To cite this cell line use: GM01460 (RRID:CVCL_4N16)
Comments Population: Caucasian; French Canadian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6547; LDLR; Simple; p.Cys667Tyr (c.2000G>A) (C646Y); ClinVar=VCV000003689; Zygosity=Heterozygous (Coriell=GM01460).
Disease Hyperlipoproteinemia, type IIa (NCIt: C123416)
Homozygous familial hypercholesterolemia (ORDO: Orphanet_391665)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_7288 ! GM00483
Sex of cell Female
Age at sampling 38Y
Category Transformed cell line
Publications

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
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) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

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

PubMed=12406975; DOI=10.1093/clinchem/48.11.1913
Bodamer O.A., Bercovich D., Schlabach M., Ballantyne C., Zoch D., Beaudet A.L.
Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia.
Clin. Chem. 48:1913-1918(2002)

Cross-references
Cell line collections (Providers) Coriell; GM01460
Cell line databases/resources CLO; CLO_0030878
Encyclopedic resources Wikidata; Q54836845
Entry history
Entry creation22-Sep-2015
Last entry update30-Jan-2024
Version number16