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


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. Copyright © 2020. Published by Elsevier B.V.

Authors Shahryari A, Moya N, Siehler J, Wang X, Karolina Blöchinger A, Burtscher I, Bakhti M, Mowla SJ, Lickert H
Journal Stem cell research
Publication Date 2020 Jul 25;47:101927
PubMed 32739881
DOI 10.1016/j.scr.2020.101927

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