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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; 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
Mulivor R.A., Suchy S.F.
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
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; 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 update29-Jun-2023
Version number10