Induced pluripotent stem cells (iPSCs), derived from human adult cells and capable of being differentiated to become a variety of cell types, are a powerful tool for studying everything from molecular processes underlying human diseases to elusive genetic variants associated with human phenotypes.
In a new paper, a large team of researchers led by senior author Kelly Frazer, PhD, professor of pediatrics and director of the Institute for Genomic Medicine at University of California San Diego School of Medicine, describe a new collection of 222 systematically derived and characterized iPSC lines generated as part of the National Heart, Lung and Blood Institute’s NextGen consortium.
Dubbed iPSCORE for “iPSC Collection for Omic Research,” Frazer said the novel collection addresses several significant issues that currently hamper using iPSCs as a model system for human genetic studies investigating the segregation of traits, such as lack of large numbers of molecularly well-phenotyped lines and representation of ethnic diversity as well as participants from families and genetically unrelated individuals.
“The iPSCORE collection contains 75 lines from people of non-European ancestry, including East Asian, South Asian, African American, Mexican American, and Multiracial. It includes multigenerational families and monozygotic twins,” said Frazer. “This collection will enable us to study how genetic variation influences traits, both at a molecular and physiological level, in appropriate human cell types, such as heart muscle cells. It will help researchers investigate not only common but also rare, and even family-specific variations.”
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