Stem Cell Research (Aug 2020)

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

  • Alireza Shahryari,
  • Noel Moya,
  • Johanna Siehler,
  • Xianming Wang,
  • Anna Karolina Blöchinger,
  • Ingo Burtscher,
  • Mostafa Bakhti,
  • Seyed Javad Mowla,
  • Heiko Lickert

Journal volume & issue
Vol. 47
p. 101927

Abstract

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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.