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SUMMARY:CANCELLED: Effects of genetic variation on cellular pluripotency a
 nd its implications for modelling functional effects of human disease alle
 les in iPSCs - Dr Helena Kilpinen (EMBL - European Bioinformatics Institut
 e)
DTSTART:20150318T130000Z
DTEND:20150318T140000Z
UID:TALK58243@talks.cam.ac.uk
CONTACT:38510
DESCRIPTION:*PLEASE NOTE: THIS TALK IS CANCELLED DUE TO ILLNESS*\n\nInduce
 d pluripotent stem cells (iPSCs) are a powerful model system for studying 
 the cellular basis of human health and disease. The Human Induced Pluripot
 ent Stem Cell Initiative (www.hipsci.org) is generating iPSC lines from 50
 0 healthy individuals and 500 individuals with rare disorders\, which will
  be made available to the research community. The lines are extensively pr
 ofiled for diverse cellular phenotypes to elucidate the biological propert
 ies and genetic basis of pluripotency. I will describe the HipSci resource
  and initial analysis of about 600 iPSC lines from approximately 200 healt
 hy donors\, which has enabled a comprehensive assessment of variation and 
 heterogeneity in these lines. Preliminary findings suggest that genetic ef
 fects on molecular traits\, such as gene expression\, can be robustly iden
 tified in iPSCs\, often explaining a substantially larger proportion of th
 e variance than other technical and biological factors.  Rapidly accumulat
 ing data within the HipSci resource allows us to study how gene expression
  variability affects the epigenome\, protein abundances\, and imaging-base
 d phenotypes of whole cells\, and how findings from iPSCs relate to adult 
 tissues and disease association studies.
LOCATION:Thomas Strangeways Room\, Strangeways Research Laboratory
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