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Cellosaurus GM03040 (CVCL_4N35)

[Text version]
Cell line name GM03040
Synonyms GM03040B
Accession CVCL_4N35
Resource Identification Initiative To cite this cell line use: GM03040 (RRID:CVCL_4N35)
Comments Population: Caucasian.
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.Gly219del (c.651TGG[1]) (c.654_656delTGG) (G197del, c.652delGGT); ClinVar=VCV000226329; 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)
Sex of cell Male
Age at sampling 9Y
Category Finite cell line
Publications

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)

PubMed=29308438; DOI=10.1016/j.jacbts.2016.06.006; PMCID=PMC5753417
Elise F. Villard, Aurelie Thedrez, Jorg Blankenstein, Mikael Croyal, Thi-Thu-Trang Tran, Bruno Poirier, Jean-Christophe Le Bail, Stephane Illiano, Estelle Nobecourt, Michel Krempf, Dirk J. Blom ...Show all 16 authors... , A. David Marais, Philip Janiak, Anthony J. Muslin, Etienne Guillot, Gilles Lambert; Show fewer authors
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; GM03040
Cell line databases/resources CLO; CLO_0012624
Biological sample resources BioSample; SAMN00808222
Encyclopedic resources Wikidata; Q54837832
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number11