StudyType	PubMedID	Author	Title	Journal	PublishDate	Chromosome	Disease	Technology	Species	CaseID	Platform	CNA	Connection	Gene	Affiliation	Abstract	GenomeAssembly	GEO	dbGaP	ENA	IsCancer	FusionGene
Research	23550136	Jonathan J. M. Landry, Paul Theodor Pyl, Tobias Rausch, Thomas Zichner, Manu M. Tekkedil, Adrian M. Stutz, Anna Jauch, Raeka S. Aiyar, Gregoire Pau, Nicolas Delhomme, Julien Gagneur, Jan O. Korbel, Wolfgang Huber, Lars M. Steinmetz	The Genomic and Transcriptomic Landscape of a HeLa Cell Line	G3 (Bethesda)	2013 Mar	5,11,19,X	Cervical cancer	Next Generation Sequencing	Homo sapiens	23550136_1	Illumina HiSeq 2000				European Molecular Biology Laboratory, Genome Biology Unit, 69117 Heidelberg, Germany, and University Hospital Heidelberg, Institute of Human Genetics, 69120 Heidelberg, Germany	HeLa is the most widely used model cell line for studying human cellular and molecular biology. To date, no genomic reference for this cell line has been released, and experiments have relied on the human reference genome. Effective design and interpretation of molecular genetic studies performed using HeLa cells require accurate genomic information. Here we present a detailed genomic and transcriptomic characterization of a HeLa cell line. We performed DNA and RNA sequencing of a HeLa Kyoto cell line and analyzed its mutational portfolio and gene expression profile. Segmentation of the genome according to copy number revealed a remarkably high level of aneuploidy and numerous large structural variants at unprecedented resolution. Some of the extensive genomic rearrangements are indicative of catastrophic chromosome shattering, known as chromothripsis. Our analysis of the HeLa gene expression profile revealed that several pathways, including cell cycle and DNA repair, exhibit significantly different expression patterns from those in normal human tissues. Our results provide the first detailed account of genomic variants in the HeLa genome, yielding insight into their impact on gene expression and cellular function as well as their origins. This study underscores the importance of accounting for the strikingly aberrant characteristics of HeLa cells when designing and interpreting experiments, and has implications for the use of HeLa as a model of human biology.	GRCh37/hg19		phs000643		Yes	NA