Generation and characterization of a human iPSC line SANi008-A from a Chédiak-Higashi Syndrome patient

Stem Cell Res. 2021 Aug:55:102442. doi: 10.1016/j.scr.2021.102442. Epub 2021 Jun 24.

Abstract

Induced pluripotent stem cells (iPSCs) were generated from erythroblasts (EBLs) obtained from a patient diagnosed with Chédiak-Higashi Syndrome (CHS), caused by mutations in LYST (c.4322_4325delAGAG and c.10127A>G). EBLs were reprogrammed with CytoTune-iPS 2.0 Sendai Reprogramming Kit, where the generated iPSCs showed normal karyotype, expression of pluripotency associated markers and in vitro spontaneous differentiation towards the three germ layers. The generated iPSCs can be used to study CHS pathophysiology and the role of LYST in different cell types.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Differentiation
  • Chediak-Higashi Syndrome* / genetics
  • Erythroblasts
  • Germ Layers
  • Humans
  • Induced Pluripotent Stem Cells*