ArticleScientific reports2018
Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
What it found
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Who cites it
53 citing papers in PubMed, 82 citations in OpenAlex.
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- Modeling myeloid cell development in health and disease using induced pluripotent stem cells.Frontiers in immunology · 2026Review
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- In vitro human cell culture models in a bench-to-bedside approach to epilepsy.Epilepsia open · 2024Review
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- Retinal Ciliopathies and Potential Gene Therapies: A Focus on Human iPSC-Derived Organoid Models.International journal of molecular sciences · 2024Review
- Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients.Acta neuropathologica · 2024Article
- Disruption of MAM integrity in mutant FUS oligodendroglial progenitors from hiPSCs.Acta neuropathologica · 2024Article
- Challenges and opportunities to bridge translational to clinical research for personalized mitochondrial medicine.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Review
- Efficient derivation of transgene-free porcine induced pluripotent stem cells enables in vitro modeling of species-specific developmental timing.Stem cell reports · 2023Article
- Injury-specific factors in the cerebrospinal fluid regulate astrocyte plasticity in the human brain.Nature medicine · 2023Article
- A reversible state of hypometabolism in a human cellular model of sporadic Parkinson's disease.Nature communications · 2023Article
- Setting standards for stem cells.Nature methods · 2023Article
- Lessons learnt, and still to learn, in first in human stem cell trials.Stem cell reports · 2023Review
- CRISPR-Cas9 correction of a nonsense mutation inMolecular therapy. Methods & clinical development · 2023Article
- Functional genomics in stroke: current and future applications of iPSCs and gene editing to dissect the function of risk variants.BMC cardiovascular disorders · 2023Review
- Advances in 3D Organoid Models for Stem Cell-Based Cardiac Regeneration.International journal of molecular sciences · 2023Review
Corrections and comments
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Authors and funding
19 authors at 3 institutions in 2 countries.
Funding
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 samples. Somatic variant number was independent from reprogramming, cell type and passage. Comparison with disease genes and prediction scores suggest biological relevance for some variants. We show that high-throughput sequencing has value beyond SNV detection and the requirement to individually evaluate each clone.
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Registered trials
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