Generation of an induced pluripotent stem cell line SHCDNi001-A from a one-year-old Chinese girl with mitochondrial DNA depletion syndrome 13

Fang Yuan; Chunmei Wang; Jiaming Xi; Simei Wang; Longlong Lin; Yilin Wang; Anqi Wang; Chao Wang; Xiaona Luo; Quanmei Xu; Rongrong Yin; Hongyi Cheng; Yuanfeng Zhang; Xiaomin Sun; Yucai Chen

doi:10.1016/j.scr.2020.101832

Generation of an induced pluripotent stem cell line SHCDNi001-A from a one-year-old Chinese girl with mitochondrial DNA depletion syndrome 13

Stem Cell Res. 2020 May:45:101832. doi: 10.1016/j.scr.2020.101832. Epub 2020 Apr 29.

Authors

Affiliations

¹ Department of Neurology, Shanghai Children's Hospital, Shanghai JiaoTong University, Shanghai 200062, China.
² Department of Neurology, Shanghai Children's Hospital, Shanghai JiaoTong University, Shanghai 200062, China; NHC Key Laboratory of Medical Embryogenesis and Developmental Molecular Biology & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai 200040, China. Electronic address: chenyc@shchildren.com.cn.

PMID: 32416579
DOI: 10.1016/j.scr.2020.101832

Abstract

Mitochondrial DNA depletion syndrome-13 (MTDPS13) is a rare autosomal recessive mitochondrial disease caused by mutations in the FBXL4 (F-box and leucine-rich repeat protein 4) gene. Using Sendai virus-mediated reprogramming, we established an induced pluripotent stem cell (iPSC) line from PBMCs collected from a one-year-old female patient with MTDPS13. The iPSCs were stable during amplification, expressed pluripotent genes, maintained a normal karyotype, and showed characteristics of the three germs layers in an in vitro differentiation assay.

Publication types

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

MeSH terms

Cell Differentiation
Cellular Reprogramming
China
DNA, Mitochondrial / genetics
Female
Humans
Induced Pluripotent Stem Cells*
Infant
Sendai virus / genetics

Substances

DNA, Mitochondrial