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Cellosaurus GM00483 (CVCL_7288)

[Text version]
Cell line name GM00483
Synonyms GM-483; GM 483
Accession CVCL_7288
Resource Identification Initiative To cite this cell line use: GM00483 (RRID:CVCL_7288)
Comments Population: Caucasian; French Canadian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6547; LDLR; Simple; p.Cys667Tyr (c.2000G>A) (C646Y); ClinVar=VCV000003689; Zygosity=Heterozygous (Coriell=GM00483).
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_4N16 ! GM01460
Sex of cell Female
Age at sampling 37Y
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)

PubMed=6986448; DOI=10.1016/S0022-2275(20)39846-1
Howard S. Kruth, Martha Vaughan;
Quantification of low density lipoprotein binding and cholesterol accumulation by single human fibroblasts using fluorescence microscopy.
J. Lipid Res. 21:123-130(1980)

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; GM00483
Cell line databases/resources CLO; CLO_0003512
CLO; CLO_0025954
CLDB; cl1479
Encyclopedic resources Wikidata; Q54836255
Entry history
Entry creation04-Apr-2012
Last entry update19-Dec-2024
Version number18