Generation of an urine-derived induced pluripotent stem cell line from a 6-year old X-linked adrenoleukodystrophy (X-ALD) patient

Long Wang; Beibei Gao; Xuming Mo; Xiaoling Guo; Jinyu Huang

doi:10.1016/j.scr.2021.102170

Generation of an urine-derived induced pluripotent stem cell line from a 6-year old X-linked adrenoleukodystrophy (X-ALD) patient

Stem Cell Res. 2021 Mar:51:102170. doi: 10.1016/j.scr.2021.102170. Epub 2021 Jan 12.

Authors

Long Wang¹, Beibei Gao², Xuming Mo³, Xiaoling Guo⁴, Jinyu Huang⁵

Affiliations

¹ Department of Cardiology, the Affiliated Hangzhou First People's Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang, China; Translational Medicine Research Center, Key Laboratory of Clinical Cancer Pharmacology and Toxicology Research of Zhejiang Province, the Affiliated Hangzhou First People's Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang, China. Electronic address: wanglong880729@126.com.
² Department of Cardiology, the Affiliated Hangzhou First People's Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang, China. Electronic address: beier05@126.com.
³ Department of Cardiothoracic Surgery, Children's Hospital of Nanjing Medical University, Nanjing, China. Electronic address: mohsuming15@njmu.edu.cn.
⁴ Center of Scientific Research, the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China. Electronic address: guoxling@hotmail.com.
⁵ Department of Cardiology, the Affiliated Hangzhou First People's Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang, China; Translational Medicine Research Center, Key Laboratory of Clinical Cancer Pharmacology and Toxicology Research of Zhejiang Province, the Affiliated Hangzhou First People's Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang, China. Electronic address: zdsyhjy0902@zju.edu.cn.

PMID: 33472124
DOI: 10.1016/j.scr.2021.102170

Abstract

The gene mutations of the ATP-binding-cassette transporter subfamily D member 1 (ABCD1) can lead to the inherited neuro-metabolic malfunction disease X-linked adrenoleukodystrophy (X-ALD). Human urine cells from a 6-year-old male X-ALD patient harboring a ABCD1 gene frameshift (c.2013insA, Xq28) were reprogrammed into the induced pluripotent stem cell (iPSC) line WMUi014-A with Sendai virus reprogramming kit containing OCT4, SOX2, c-MYC, and KLF4 Yamanaka factors. The established iPSCs in vitro stably expressed pluripotent markers, had differentiation potential into three germ layers, and maintained a normal 44 + XY karyotype.

Publication types

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

MeSH terms

Adrenoleukodystrophy* / genetics
Cell Differentiation
Child
Humans
Induced Pluripotent Stem Cells*
Kruppel-Like Factor 4
Male
Mutation
Sendai virus