ID   GM00667
AC   CVCL_DN44
SY   GM-667
DR   CLO; CLO_0028861
DR   Coriell; GM00667
DR   Wikidata; Q54836381
RX   CelloPub=CLPUB00447;
CC   Population: Lebanese.
CC   Sequence variation: Mutation; HGNC; 18640; LDLRAP1; Simple; p.Gln136Ter (c.406C>T); ClinVar=VCV000004775; Zygosity=Homozygous (Coriell=GM00667).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C128114; Hypercholesterolemia, familial, 4
DI   ORDO; Orphanet_391665; Homozygous familial hypercholesterolemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   12Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 30-01-24; Version: 13
//
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).
//