Generation of a gene edited hemophilia A patient-derived iPSC cell line, YCMi001-B-1, by targeted insertion of coagulation factor FVIII using CRISPR/Cas9

Stem Cell Res. 2020 Oct:48:101948. doi: 10.1016/j.scr.2020.101948. Epub 2020 Aug 5.

Abstract

Hemophilia A is an ideal target for cell or gene therapy because a mild increase in coagulation factor VIII (FVIII) improves symptoms in patients with severe hemophilia A. In this study, we used CRISPR/Cas9 to insert FVIII cDNA into exon 1 of the mutant FVIII locus in induced pluripotent stem cells (iPSCs) from a hemophilia A patient. This gene-modified YCMi001-B-1 line maintained its pluripotency, formed all three germ layers, and had a normal karyotype. In addition, FVIII expression was confirmed in YCMi001-B-1-derived endothelial cells.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • CRISPR-Cas Systems / genetics
  • Cell Line
  • Endothelial Cells / metabolism
  • Factor VIII* / genetics
  • Factor VIII* / metabolism
  • Gene Editing
  • Hemophilia A* / genetics
  • Hemophilia A* / therapy
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism

Substances

  • Factor VIII