ID   GM03065
AC   CVCL_4N39
DR   CLO; CLO_0013476
DR   BioSample; SAMN00808233
DR   Coriell; GM03065
DR   Wikidata; Q54837847
RX   CelloPub=CLPUB00447;
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=Heterozygous (from familial inference of GM03040).
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   Female
AG   30Y
CA   Finite cell line
DT   Created: 22-09-15; Last updated: 30-01-24; Version: 11
//
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).
//