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


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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Yuan F, Wang C, Xi J, Wang S, Lin L, Wang Y, Wang A, Wang C, Luo X, Xu Q, Yin R, Cheng H, Zhang Y, Sun X, Chen Y
Journal Stem cell research
Publication Date 2020 May;45:101832
PubMed 32416579
DOI 10.1016/j.scr.2020.101832

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