Stem Cell Research (Jun 2023)

Generation and characterization of iPS cell line (CTGUi001-A) from skin fibroblasts of a patient with Fabry disease

  • Yu Qin,
  • Jing-qiong Zhan,
  • Cui-jiao Ma,
  • Chun-yu Cao,
  • Yuan Zhang,
  • Yuan-ting Min,
  • Ya-feng Lv

Journal volume & issue
Vol. 69
p. 103063

Abstract

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We have generated an iPSCs line (CTGUi001-A) from dermal fibroblasts of a 16-year-old male Fabry disease patient with a novel GLA gene mutation (c.156C > A) using Sendai virus encoding the four Yamanaka factors OCT4, SOX2, KLF4, and c-MYC. The CTGUi001-A iPSC line displayed typical embryonic stem cell-like morphology, carried the GLA gene mutation, expressed several pluripotent stem cell makers, retained normal karyotype (46, XY) and was capable of forming teratomas containing three germ layers.