ID   GM03040
AC   CVCL_4N35
SY   GM03040B
DR   CLO; CLO_0012624
DR   BioSample; SAMN00808222
DR   Coriell; GM03040
DR   Wikidata; Q54837832
RX   CelloPub=CLPUB00447;
RX   PubMed=29308438;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6547; LDLR; Simple; p.Gly219del (c.651TGG[1]) (c.654_656delTGG) (G197del, c.652delGGT); ClinVar=VCV000226329; Zygosity=Homozygous (PubMed=29308438).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C123416; Hyperlipoproteinemia, type IIa
DI   ORDO; Orphanet_391665; Homozygous familial hypercholesterolemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   9Y
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 29-06-23; Version: 10
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=29308438; DOI=10.1016/j.jacbts.2016.06.006;
RA   Villard E.F., Thedrez A., Blankenstein J., Croyal M., Tran T.-T.-T.,
RA   Poirier B., Le Bail J.-C., Illiano S., Nobecourt E., Krempf M.,
RA   Blom D.J., Marais A.D., Janiak P., Muslin A.J., Guillot E.,
RA   Lambert G.;
RT   "PCSK9 modulates the secretion but not the cellular uptake of
RT   lipoprotein(a) ex vivo: an effect blunted by alirocumab.";
RL   JACC Basic Transl. Sci. 1:419-427(2016).
//