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Cellosaurus PENN162i-M14-11 (CVCL_EL62)

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Cell line name PENN162i-M14-11
Synonyms Penn162i-M14-11; M14-11
Accession CVCL_EL62
Resource Identification Initiative To cite this cell line use: PENN162i-M14-11 (RRID:CVCL_EL62)
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; HGNC:1664; SCARB1; Simple; p.Pro376Leu (c.1127C>T); ClinVar=VCV000253091; Zygosity=Homozygous (WiCell=penn162i-m14-11).
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_EL59 ! PENN159i-M14-4
Sex of cell Female
Age at sampling 65Y
Category Induced pluripotent stem cell
Publications

PubMed=26965621; DOI=10.1126/science.aad3517; PMCID=PMC4889017
Paolo Zanoni, Sumeet Anand Khetarpal, Daniel B. Larach, William F. Hancock-Cerutti, John S. Millar, Marina Cuchel, Stephanie L. DerOhannessian, Anatol Kontush, Praveen Surendran, Danish Saleheen, Stella Trompet ...Show all 49 authors... , Johan Wouter Jukema, Anton De Craen, Panos Deloukas, Naveed Sattar, Ian Ford, Christopher J. Packard, Abdullah Al Shafi Majumder, Dewan S. Alam, Emanuele Di Angelantonio, Goncalo Rocha Abecasis, Rajiv Chowdhury, Jeanette Erdmann, Borge G. Nordestgaard, Sune Fallgaard Nielsen, Anne Tybjaerg-Hansen, Ruth Frikke Schmidt, Kari Kuulasmaa, Da-Jiang J. Liu, Markus Perola, Stefan Blankenberg, Veikko Salomaa, Satu Mannisto, Philippe Amouyel, Dominique Arveiler, Jean Ferrieres, Martina Muller-Nurasyid, Marco Ferrario, Frank Kee, Cristen Jennifer Willer, Nilesh Jayantilal Samani, Heribert Schunkert, Adam S. Butterworth, Joanna M.M. Howson, Gina Marie Peloso, Nathan O. Stitziel, John Danesh, Sekar Kathiresan, Daniel James Rader; Show fewer authors
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; penn162i-m14-11
Cell line databases/resources SKIP; SKIP005065
Encyclopedic resources Wikidata; Q54947149
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number17