Cellosaurus cell line PENN159i-M14-4 (CVCL

Cellosaurus PENN159i-M14-4 (CVCL_EL59)

Cross-references
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; 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 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, Johan Wouter Jukema, Anton De Craen ...Show all 49 authors... , Panos Deloukas, Naveed Sattar, Ian Ford, Chris 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 M. 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)
Cell line collections (Providers)	WiCell; penn159i-m14-4
Cell line databases/resources	SKIP; SKIP005066
Encyclopedic resources	Wikidata; Q54947146
Entry history
Entry creation	26-Sep-2016
Last entry update	19-Dec-2024
Version number	17