Production and characterization of human induced pluripotent stem cell line (PUMCi002-A) from a Krabbe patient related control to study disease mechanisms associated with GALC mutation
单位：[1]Hubei Key Laboratory of Tumor Microenvironment and Immunotherapy, College of Basic Medical Sciences, China Three Gorges University, Yichang 443002, Hubei, China[2]Department of Neurology, China-Japan Friendship Hospital, Beijing 100029, China[3]State Key Laboratory of Medical Molecular Biology, Department of Biochemistry and Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100005, China
A KD-control human induced pluripotent stem cells (iPSCs) line (PUMCi002-A) was generated from dermal fibroblasts of a Krabbe patient's father with a c.461C > A mutation in Galactocerebrosidase (GALC) gene. The pluripotency, in vitro differentiation potential and karyotype stability of generated iPSC line were analyzed and confirmed. This cell line can be exploited as a control iPSC line to better understand the mechanisms involved in GALC-associated Krabbe disease and provide plausible new therapeutic directions.
基金：
Beijing Municipal Science & Tech-nology Commission [Z211100002921005]; Hubei Provincial Science and Technology Projects [Q20211207]; Yichang Medical and Health Science and Technology Project [A22-2-069]
第一作者单位：[1]Hubei Key Laboratory of Tumor Microenvironment and Immunotherapy, College of Basic Medical Sciences, China Three Gorges University, Yichang 443002, Hubei, China
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通讯作者：
推荐引用方式(GB/T 7714)：
Lv Ya-feng,Wang Jing,Cao Chun-yu,et al.Production and characterization of human induced pluripotent stem cell line (PUMCi002-A) from a Krabbe patient related control to study disease mechanisms associated with GALC mutation[J].STEM CELL RESEARCH.2022,65:doi:10.1016/j.scr.2022.102945.
APA：
Lv, Ya-feng,Wang, Jing,Cao, Chun-yu,Zhang, Ye&Wang, Wei.(2022).Production and characterization of human induced pluripotent stem cell line (PUMCi002-A) from a Krabbe patient related control to study disease mechanisms associated with GALC mutation.STEM CELL RESEARCH,65,
MLA：
Lv, Ya-feng,et al."Production and characterization of human induced pluripotent stem cell line (PUMCi002-A) from a Krabbe patient related control to study disease mechanisms associated with GALC mutation".STEM CELL RESEARCH 65.(2022)
