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

Authors：Qin, Yu; Zhan, Jing-qiong; Ma, Cui-jiao; Cao, Chun-yu; Zhang, Yuan^*; Min, Yuan-ting^*; Lv, Ya-feng^*

Source：Stem Cell Research, 2023, 69: 103063.

DOI：10.1016/j.scr.2023.103063

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 ter -atomas containing three germ layers.

• Institution
  1; 中国医学科学院; y; 中国医学科学院北京协和医院