SNP Array Analysis of Gene Edited SDV Patient iPSCs

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.]]> Primary tissue samples utilized for derivation of patient iPSCs in this study were obtained from the NIGMS Human Genetic Cell Repository at the Coriell Institute for Medical Research (#: GM13539). Based on provided clinical/radiological data indicating a patient with segmentation defects of the vertebrae (SDV). Patient was diagnosed with spondylothoracic dysostosis, malsegmentation of the spine, numerous hemivertebrae, "crab thorax" and lordosis. Two iPSC clones passing initial quality control checks were utilized for the study, together with three rescue clones of heterozygously corrected patient-iPSCs.]]>