Generation of five induced pluripotent stem cell lines with DMD/c.497G > T mutation from renal epithelial cells of a Duchenne muscular dystrophy patient and a recessive carrier parent

Summary

Duchenne muscular dystrophy (DMD), an inherited disease caused by the dystrophin gene mutation, is the most common muscular dystrophy in children and is clinically characterized by progressive muscle degeneration and severe cardiomyopathy. In this study, renal epithelial cells were obtained from urine samples of a DMD patient (4 years old) and his recessive carrier parent (35 years old). The cells were reprogrammed with non-integrating Sendai virus to generate three induced pluripotent stem cell (iPSC) clones for the patient and two clones for non-manifesting mutation carrier parent. The iPSC lines had normal karyotypes, iPSC morphology, pluripotency expression markers, and were capable of differentiating into the three germ layers. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Su J, Wang J, Wang L, Li T, Wang H, Shen J, Wang H, Zhang J, Lin W, Huang J, Liang P
Journal Stem cell research
Publication Date 2020 Oct 2;49:102021
PubMed 33039804
DOI 10.1016/j.scr.2020.102021

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