ID   GM01116
AC   CVCL_CX46
SY   GM-1116; GM1116
DR   Coriell; GM01116
DR   Wikidata; Q54836650
RX   CelloPub=CLPUB00387;
RX   DOI=10.5962/bhl.title.4090;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6547; LDLR; Simple; p.Glu408Lys (c.1222G>A) (E387K); ClinVar=VCV000036453; Zygosity=Homozygous (from autologous cell line GM02000).
CC   Discontinued: Coriell; GM01116; probable.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C123416; Hyperlipoproteinemia, type IIa
DI   ORDO; Orphanet_391665; Homozygous familial hypercholesterolemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_1V08 ! GM02000
SX   Female
AG   7Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 29-06-23; Version: 10
//
RX   CelloPub=CLPUB00387;
RA   Coriell L.L., Greene A.E., Mulivor R.A.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 7th edition. October 1980.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 80-2011; pp.1-254; National Institutes of Health; Bethesda (1980).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//