Generation of a human iPSC line harboring a biallelic large deletion at the INK4 locus (HMGUi001-A-5).

Stem Cell Res

Institute of Diabetes and Regeneration Research, Helmholtz Zentrum München, D-85764 Neuherberg, Germany; Institute of Stem Cell Research, Helmholtz Zentrum München, D-85764 Neuherberg, Germany; Technical University of Munich, School of Medicine, Department of Human Genetics, Klinikum Rechts der Isar, 81675 München, Germany; German Center for Diabetes Research (DZD), 85764 Neuherberg, Germany. Electronic address:

Published: July 2020

The INK4 locus is considered as a hot-spot region for the complex genetic disorders, including cancer, type 2 diabetes (T2D) and coronary artery disease (CAD). By CRISPR/Cas9 gene editing, we generated a human induced pluripotent stem cell (hiPSC) line (HMGUi001-A-5) deleting an 8 kb genomic DNA encompassing six T2D-associated SNPs at the INK4 locus. The resulting hiPSC line revealed a normal karyotype, preserved pluripotency and was able to differentiate towards germ layers, endoderm, mesoderm and ectoderm. Thus, the HMGUi001-A-5 line could provide a valuable cellular model to explore the molecular mechanisms linking these SNPs to T2D and other genetic disorders.

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http://dx.doi.org/10.1016/j.scr.2020.101927DOI Listing

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