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

doi:10.1016/j.scr.2023.103063

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

Stem Cell Res. 2023 Jun:69:103063. doi: 10.1016/j.scr.2023.103063. Epub 2023 Mar 7.

Authors

Yu Qin¹, Jing-Qiong Zhan¹, Cui-Jiao Ma², Chun-Yu Cao², Yuan Zhang³, Yuan-Ting Min⁴, Ya-Feng Lv⁵

Affiliations

¹ The People's Hospital of China Three Gorges University, The First People's Hospital of Yichang, Yichang 443000, Hubei, China.
² Hubei Key Laboratory of Tumor Microenvironment and Immunotherapy, College of Basic Medical Sciences, China Three Gorges University, Yichang 443002, Hubei, China.
³ Department of International Medical Services, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China. Electronic address: zh.y.1989@163.com.
⁴ Hubei Provincial Clinical Research Center for Precise Prevention and Treatment of Elderly Gastrointestinal Cancer, The Second People's Hospital of China Three Gorges University, Yichang 443002, Hubei, China. Electronic address: 674294473@qq.com.
⁵ Hubei Key Laboratory of Tumor Microenvironment and Immunotherapy, College of Basic Medical Sciences, China Three Gorges University, Yichang 443002, Hubei, China. Electronic address: lvyafeng@ctgu.edu.cn.

PMID: 36917862
DOI: 10.1016/j.scr.2023.103063

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Cell Differentiation / genetics
Cell Line
Fabry Disease* / genetics
Fibroblasts / metabolism
Humans
Induced Pluripotent Stem Cells* / metabolism
Kruppel-Like Factor 4
Male

Substances

Kruppel-Like Factor 4