<p>This study, "SNP Array Analysis of Gene Edited SDV Patient iPSCs" is part of a larger study where we applied our recently established experimental in vitro model system of the human segmentation clock, for the analysis of human segmentation defects of the vertebrae (SDV) including spondylocostal dysostosis (SCD). To this end we generated patient-derived iPSC lines, identified putative disease-causing mutations and corrected these mutations using CRISPR/Cas9-based genome editing technology. We identified in the patient-sample originally obtained from the NIGMS Human Genetic Cell Repository at the Coriell Institute for Medical Research (#: GM13539) heterozygous compound mutations in MESP2. These mutations were corrected accordingly and the resulting clones were genotyped by SNP array analysis.</p>

SNP Array Analysis of Gene Edited SDV Patient iPSCs

1 selected publication including "Recapitulating the human segmentation clock with pluripotent stem cell..." (158 citations)

SNP Array Analysis of Gene Edited SDV Patient iPSCs

Recapitulating the human segmentation clock with pluripotent stem cells