Characterization of an induced pluripotent stem cell line (IMBPASi001-A) derived from fibroblasts of a patient affected by Wolfram Syndrome.
Stem cell research(2020)
摘要
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.
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