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Cellosaurus GM02000 (CVCL_1V08)

[Text version]
Cell line name GM02000
Synonyms GM-2000; GM 2000; GM2000; GM02000F
Accession CVCL_1V08
Resource Identification Initiative To cite this cell line use: GM02000 (RRID:CVCL_1V08)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 6547; LDLR; Simple; p.Glu408Lys (c.1222G>A) (E387K); ClinVar=VCV000036453; Zygosity=Homozygous (PubMed=29308438).
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_CX46 ! GM01116
Sex of cell Female
Age at sampling 7Y
Category Finite 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)

CLPUB00387
Coriell L.L., Greene A.E., Mulivor R.A.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 7th edition. October 1980.
(In) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda (1980)

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

PubMed=6089204; DOI=10.1073/pnas.81.17.5454
Kingsley D.M., Krieger M.
Receptor-mediated endocytosis of low density lipoprotein: somatic cell mutants define multiple genes required for expression of surface-receptor activity.
Proc. Natl. Acad. Sci. U.S.A. 81:5454-5458(1984)

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=29308438; DOI=10.1016/j.jacbts.2016.06.006
Villard E.F., Thedrez A., Blankenstein J., Croyal M., Tran T.-T.-T., Poirier B., Le Bail J.-C., Illiano S., Nobecourt E., Krempf M., Blom D.J., Marais A.D., Janiak P., Muslin A.J., Guillot E., Lambert G.
PCSK9 modulates the secretion but not the cellular uptake of lipoprotein(a) ex vivo: an effect blunted by alirocumab.
JACC Basic Transl. Sci. 1:419-427(2016)

Cross-references
Cell line collections (Providers) Coriell; GM02000
Cell line databases/resources CLO; CLO_0032294
Biological sample resources BioSample; SAMN00807370
Encyclopedic resources Wikidata; Q54837228
Entry history
Entry creation22-Sep-2015
Last entry update29-Jun-2023
Version number12