ID   PENN162i-M14-11
AC   CVCL_EL62
SY   Penn162i-M14-11; M14-11
DR   SKIP; SKIP005065
DR   WiCell; penn162i-m14-11
DR   Wikidata; Q54947149
RX   PubMed=26965621;
CC   Part of: Next Generation Genetic Association studies (Next Gen) program cell lines.
CC   From: Rader D.J.; University of Pennsylvania; Philadelphia; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 1664; SCARB1; Simple; p.Pro376Leu (c.1127C>T); ClinVar=VCV000253091; Zygosity=Homozygous (WiCell=penn162i-m14-11).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C168987; High density lipoprotein cholesterol level quantitative trait locus 6
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_EL59 ! PENN159i-M14-4
SX   Female
AG   65Y
CA   Induced pluripotent stem cell
DT   Created: 26-09-16; Last updated: 05-10-23; Version: 15
//
RX   PubMed=26965621; DOI=10.1126/science.aad3517;
RA   Zanoni P., Khetarpal S.A., Larach D.B., Hancock-Cerutti W.F.,
RA   Millar J.S., Cuchel M., DerOhannessian S., Kontush A., Surendran P.,
RA   Saleheen D., Trompet S., Jukema J.W., De Craen A., Deloukas P.,
RA   Sattar N., Ford I., Packard C., Al Shafi Majumder A., Alam D.S.,
RA   Di Angelantonio E., Abecasis G.R., Chowdhury R., Erdmann J.,
RA   Nordestgaard B.G., Nielsen S.F., Tybjaerg-Hansen A., Schmidt R.F.,
RA   Kuulasmaa K., Liu D.-J.J., Perola M., Blankenberg S., Salomaa V.,
RA   Mannisto S., Amouyel P., Arveiler D., Ferrieres J.,
RA   Muller-Nurasyid M., Ferrario M., Kee F., Willer C.J., Samani N.J.,
RA   Schunkert H., Butterworth A.S., Howson J.M.M., Peloso G.M.,
RA   Stitziel N.O., Danesh J., Kathiresan S., Rader D.J.;
RT   "Rare variant in scavenger receptor BI raises HDL cholesterol and
RT   increases risk of coronary heart disease.";
RL   Science 351:1166-1171(2016).
//