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

源自 Wolfram 综合征患者成纤维细胞的诱导性多能干细胞系 (IMBPASi001-A) 的表征

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作者: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.

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