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Stem Cell Res. 2019 Mar;35:101396. doi: 10.1016/j.scr.2019.101396. Epub 2019 Feb 2.

Generation of two induced pluripotent stem cell lines from skin fibroblasts of sisters carrying a c.1094C>A variation in the SCN10A gene potentially associated with small fiber neuropathy.

Author information

1
Department of Neurology, University of Würzburg, Würzburg, Germany.
2
Institute of Anatomy and Cell Biology II, University of Würzburg, Würzburg, Germany.
3
Institute of Human Genetics, Biocenter, University of Würzburg, Würzburg, Germany.
4
Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
5
Department of Neurology, University of Würzburg, Würzburg, Germany. Electronic address: ueceyler_n@ukw.de.

Abstract

Induced pluripotent stem cells (iPSC) were derived from human dermal fibroblasts (HDF) of two siblings with small fiber neuropathy (SFN) potentially based on the same variation in SCN10A but exhibiting diverse disease phenotypes. HDF were reprogrammed using a non-integrating mRNA approach and showed robust expression of pluripotency markers. iPSC displayed no chromosomal aberrations and were differentiated into all three germ-layers. These two cell lines with a familial genetic background may provide a useful in vitro tool to investigate the underlying mechanisms leading to different phenotypes caused by the same variation.

PMID:
30731422
DOI:
10.1016/j.scr.2019.101396
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