Stem Cell Research (Feb 2024)

Generation of a human iPSC line (CHCMUi002-A) from peripheral blood mononuclear cells from a chronic granulomatous disease patient

  • Anle Zeng,
  • Ke Ni,
  • Shuyu Fang,
  • Lang Yu,
  • Yelei Gao,
  • Lina Zhou,
  • Xiaodong Zhao

Journal volume & issue
Vol. 74
p. 103269

Abstract

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Chronic granulomatous disease (CGD) is a rare X-linked recessive primary immunodeficiency disease (PID). Herein, a human induced pluripotent stem cell (iPSC) line was generated from the peripheral blood mononuclear cells (PBMCs) of a CGD patient with a mutation (c.785_786delTT) in the CYBB gene. These iPSCs showed the expression of pluripotency markers, the ability to differentiate into three germ layers. They offer a promising technique for studying the pathogenesis and conducting drug screening for CGD patients.