{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Popp B"],"funding":["Deutsche Forschungsgemeinschaft","Deutsche Forschungsgemeinschaft (German Research Foundation)"],"pagination":["17201"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6249203"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["8(1)"],"pubmed_abstract":["Genetic integrity of induced pluripotent stem cells (iPSCs) is essential for their validity as disease models and for potential therapeutic use. We describe the comprehensive analysis in the ForIPS consortium: an iPSC collection from donors with neurological diseases and healthy controls. Characterization included pluripotency confirmation, fingerprinting, conventional and molecular karyotyping in all lines. In the majority, somatic copy number variants (CNVs) were identified. A subset with available matched donor DNA was selected for comparative exome sequencing. We identified single nucleotide variants (SNVs) at different allelic frequencies in each clone with high variability in mutational load. Low frequencies of variants in parental fibroblasts highlight the importance of germline sam"],"journal":["Scientific reports"],"pubmed_title":["Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium."],"pmcid":["PMC6249203"],"funding_grant_id":["GRK2162"],"pubmed_authors":["Gunther K","Ekici AB","Winner B","Asadollahi R","Rauch A","Kohl Z","Farrell M","Sommer A","Uebe S","Krumbiegel M","Reis A","Kraus C","Regensburger M","Popp B","Winkler J","Grosch J","Plotz S","Edenhofer F","Trautmann U"],"additional_accession":[]},"is_claimable":false,"name":"Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.","description":"Genetic integrity of induced pluripotent stem cells (iPSCs) is essential for their validity as disease models and for potential therapeutic use. We describe the comprehensive analysis in the ForIPS consortium: an iPSC collection from donors with neurological diseases and healthy controls. Characterization included pluripotency confirmation, fingerprinting, conventional and molecular karyotyping in all lines. In the majority, somatic copy number variants (CNVs) were identified. A subset with available matched donor DNA was selected for comparative exome sequencing. We identified single nucleotide variants (SNVs) at different allelic frequencies in each clone with high variability in mutational load. Low frequencies of variants in parental fibroblasts highlight the importance of germline sam","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 Nov","modification":"2026-05-06T01:57:54.386Z","creation":"2019-03-27T00:10:18Z"},"accession":"S-EPMC6249203","cross_references":{"pubmed":["30464253"],"doi":["10.1038/s41598-018-35506-0"]}}