New iPSC resource with long-read whole genome sequencing characterizations for enhanced in vitro modeling
This new iPSC resource of apparently healthy subject biospecimens is available for research through the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS Repository). This resource includes five iPSCs and matched parental cell lines with accompanying publicly available, long-read HiFi whole genome sequencing data. SNV and SV concordance between iPSC and parental lines was generally high; however, we found a notable reduction in concordance between the iPSC reprogrammed with retroviral reprogramming and its parental line, consistent with previous work showing newer Sendai approaches to be more robust. This iPSC resource additionally includes a set of user-friendly, web-based search tools to visualize and explore genome-wide structural variants (SVs) and single nucleotide variants (SNVs) as well as pharmacogenomic and human leukocyte antigen (HLA) gene annotations. This new resource is designed to offer a highly characterized set of in vitro model systems for research into cell-type specific functional characterization of genetic, genomic, and pharmacogenomic variation.