Stem Cell Research (Aug 2020)

Generation and characterization of four Chediak-Higashi Syndrome (CHS) induced pluripotent stem cell (iPSC) lines

  • Jenny Serra-Vinardell,
  • Maxwell B. Sandler,
  • Evgenia Pak,
  • Wei Zheng,
  • Amalia Dutra,
  • Wendy Introne,
  • William A. Gahl,
  • May Christine Malicdan

Journal volume & issue
Vol. 47
p. 101883


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Chediak-Higashi Syndrome (CHS) is a lysosome-related organelle (LRO) disorder caused by biallelic mutations in the lysosomal trafficking regulator gene, LYST. The clinical features of CHS include oculocutaneous albinism, primary immunodeficiency, bleeding diathesis, risk for development of hemophagocytic lymphohistiocytosis, and progressive neurological problems. The pathophysiological mechanisms underlying this disease are unknown, so developing therapeutic options remains challenging. In this study, four induced pluripotent stem (iPSC) lines from unrelated CHS patients have been generated and successfully characterized for exploring the role of LYST in health and disease in diverse cell types.