Generation of an urine-derived induced pluripotent stem cell line from a 5-year old X-linked Alport syndrome (X-LAS) patient

Xiaoling Guo; Weiping Ji; Chao Niu; Yinjuan Ding; Zhanguo Chen; Congde Chen; Hongfei Tong; Zhao Han; Maoping Chu

doi:10.1016/j.scr.2020.102085

Generation of an urine-derived induced pluripotent stem cell line from a 5-year old X-linked Alport syndrome (X-LAS) patient

Stem Cell Res. 2020 Dec:49:102085. doi: 10.1016/j.scr.2020.102085. Epub 2020 Nov 8.

Authors

Xiaoling Guo¹, Weiping Ji², Chao Niu³, Yinjuan Ding³, Zhanguo Chen⁴, Congde Chen⁵, Hongfei Tong², Zhao Han⁶, Maoping Chu⁷

Affiliations

¹ Center of Scientific Research, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China; Institute of Cardiovascular Development and Translational Medicine, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China. Electronic address: [email protected].
² Department of General Surgery, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
³ Center of Scientific Research, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China; Institute of Cardiovascular Development and Translational Medicine, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China.
⁴ Department of Clinical Laboratory, the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
⁵ Center of Scientific Research, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
⁶ Department of Neurology, the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
⁷ Center of Scientific Research, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China; Institute of Cardiovascular Development and Translational Medicine, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China. Electronic address: [email protected].

PMID: 33202306
DOI: 10.1016/j.scr.2020.102085

Abstract

The gene mutations of the collagen type IV alpha 5 chain (COL4A5) can lead to the inherited haematuria to end-stage renal disease X-linked Alport syndrome (X-LAS). The urine cells of a 5-year-old male X-LAS patient carrying a hemizygous COL4A5 gene mutation p.G1433V (c.4298G>T) were reprogrammed to induced pluripotent stem cells (iPSCs) with Sendai virus reprogramming kit containing OCT4, SOX2, c-MYC, and KLF4 Yamanaka factors. The generated iPSC line WMUi015-A stably expressed pluripotent markers, maintained a normal karyotype (46, XY), and had differentiation potential into three germ layers in vitro.

Publication types

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

MeSH terms

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