Characterization of an induced pluripotent stem cell line (IMBPASi001-A) derived from fibroblasts of a patient affected by Wolfram Syndrome
Summary
Wolfram Syndrome is a rare, autosomal recessive genetic disorder with clinical symptoms appearing in early childhood. Here, we report a generation of iPSCs from fibroblasts of a patient affected by this disease. Induced pluripotent cells obtained with the application of integration-free episomal vectors display a normal human karyotype, express pluripotency markers, and are capable of differentiating into cells of the three embryonic germ layers. Thanks to these features, this cell line is a useful model for tissue-specific pathogenetic mechanisms in Wolfram Syndrome caused by WFS1 mutations. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Grzela DP, Marciniak B, Pulaski L |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 Jul;46:101858 |
| PubMed | 32521500 |
| DOI | 10.1016/j.scr.2020.101858 |