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Characterization of an induced pluripotent stem cell line (IMBPASi001-A) derived from fibroblasts of a patient affected by Wolfram Syndrome

Publication: ScienceDirect.com | Publication Date: July 2020

Authors: Dawid P.Grzela, Beata Marciniak, Lukasz Pulaski

Abstract

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.

Full article

Lien D. Nguyen, Tom T. Fischer, Damien Abreu and Barbara E. Ehrlich. Calpain inhibitor and ibudilast rescue β cell functions in a cellular model of Wolfram syndrome. PNAS (2020). Retrieved February 16, 2024, from https://doi.org/10.1073/pnas.2007136117

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