Common genetic variation drives molecular heterogeneity in human iPSCs
Common genetic variation drives molecular heterogeneity in human iPSCs
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Author / Creator
Kilpinen, Helena , Goncalves, Angela , Leha, Andreas , Afzal, Vackar , Ashford, Sofie , Sendu Bala , Bensaddek, Dalila , Casale, Francesco Paolo , Culley, Oliver , Danacek, Petr , Faulconbridge, Adam , Harrison, Peter , Mccarthy, Davis , Mccarthy, Shane A , Meleckyte, Ruta , Memari, Yasin , Moens, Nathalie , Soares, Filipa , Streeter, Ian , Agu, Chukwuma A , Alderton, Alex , Nelson, Rachel , Harper, Sarah , Patel, Minal , Clarke, Laura , Halai, Reena , Kirton, Christopher M , Kolb-Kokocinski, Anja , Beales, Philip , Birney, Ewan , Danovi, Davide , Lamond, Angus I , Ouwehand, Willem H , Vallier, Ludovic , Watt, Fiona M , Durbin, Richard , Stegle, Oliver and Gaffney, Daniel J
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title
Language
English
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Publication information
Publisher
Cold Spring Harbor: Cold Spring Harbor Laboratory Press
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Contents
Induced pluripotent stem cell (iPSC) technology has enormous potential to provide improved cellular models of human disease. However, variable genetic and phenotypic characterisation of many existing iPSC lines limits their potential use for research and therapy. Here, we describe the systematic generation, genotyping and phenotyping of 522 open access human iPSCs derived from 189 healthy male and female individuals as part of the Human Induced Pluripotent Stem Cells Initiative (HipSci: http://www.hipsci.org). Our study provides a comprehensive picture of the major sources of genetic and phenotypic variation in iPSCs and establishes their suitability for use in genetic studies of complex human traits and cancer. Using a combination of genome-wide analyses we find that 5-25% of the variation in different iPSC phenotypes, including differentiation c...
Alternative Titles
Full title
Common genetic variation drives molecular heterogeneity in human iPSCs
Authors, Artists and Contributors
Author / Creator
Goncalves, Angela
Leha, Andreas
Afzal, Vackar
Ashford, Sofie
Sendu Bala
Bensaddek, Dalila
Casale, Francesco Paolo
Culley, Oliver
Danacek, Petr
Faulconbridge, Adam
Harrison, Peter
Mccarthy, Davis
Mccarthy, Shane A
Meleckyte, Ruta
Memari, Yasin
Moens, Nathalie
Soares, Filipa
Streeter, Ian
Agu, Chukwuma A
Alderton, Alex
Nelson, Rachel
Harper, Sarah
Patel, Minal
Clarke, Laura
Halai, Reena
Kirton, Christopher M
Kolb-Kokocinski, Anja
Beales, Philip
Birney, Ewan
Danovi, Davide
Lamond, Angus I
Ouwehand, Willem H
Vallier, Ludovic
Watt, Fiona M
Durbin, Richard
Stegle, Oliver
Gaffney, Daniel J
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Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_2070652622
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2070652622
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E-ISSN
2692-8205
DOI
10.1101/055160
How to access this item
https://www.proquest.com/docview/2070652622?pq-origsite=primo&accountid=13902