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Cellosaurus PENN159i-M14-4 (CVCL_EL59)

[Text version]
Cell line name PENN159i-M14-4
Synonyms Penn159i-M14-4; M14-4
Accession CVCL_EL59
Resource Identification Initiative To cite this cell line use: PENN159i-M14-4 (RRID:CVCL_EL59)
Comments Part of: Next Generation Genetic Association studies (Next Gen) program cell lines.
From: Rader, Daniel James; University of Pennsylvania; Philadelphia; USA.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 1664; SCARB1; Simple; p.Pro376Leu (c.1127C>T); ClinVar=VCV000253091; Zygosity=Homozygous (WiCell=penn159i-m14-4).
Disease High density lipoprotein cholesterol level quantitative trait locus 6 (NCIt: C168987)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_EL62 ! PENN162i-M14-11
Sex of cell Female
Age at sampling 65Y
Category Induced pluripotent stem cell
Publications

PubMed=26965621; DOI=10.1126/science.aad3517; PMCID=PMC4889017
Zanoni P., Khetarpal S.A., Larach D.B., Hancock-Cerutti W.F., Millar J.S., Cuchel M., DerOhannessian S., Kontush A., Surendran P., Saleheen D., Trompet S., Jukema J.W., De Craen A., Deloukas P., Sattar N., Ford I., Packard C., Al Shafi Majumder A., Alam D.S., Di Angelantonio E., Abecasis G.R., Chowdhury R., Erdmann J., Nordestgaard B.G., Nielsen S.F., Tybjaerg-Hansen A., Schmidt R.F., Kuulasmaa K., Liu D.-J.J., Perola M., Blankenberg S., Salomaa V., Mannisto S., Amouyel P., Arveiler D., Ferrieres J., Muller-Nurasyid M., Ferrario M., Kee F., Willer C.J., Samani N.J., Schunkert H., Butterworth A.S., Howson J.M.M., Peloso G.M., Stitziel N.O., Danesh J., Kathiresan S., Rader D.J.
CARDIoGRAM Exome Consortium
CHD Exome+ Consortium
Global Lipids Genetics Consortium
Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease.
Science 351:1166-1171(2016)

Cross-references
Cell line collections (Providers) WiCell; penn159i-m14-4
Cell line databases/resources SKIP; SKIP005066
Encyclopedic resources Wikidata; Q54947146
Entry history
Entry creation26-Sep-2016
Last entry update10-Sep-2024
Version number16