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

Thomas Klein; Katharina Klug; Lisa Henkel; Chee Keong Kwok; Frank Edenhofer; Eva Klopocki; Ingo Kurth; Nurcan Üçeyler

doi:10.1016/j.scr.2019.101396

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

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

Authors

Thomas Klein¹, Katharina Klug¹, Lisa Henkel¹, Chee Keong Kwok², Frank Edenhofer², Eva Klopocki³, Ingo Kurth⁴, Nurcan Üçeyler⁵

Affiliations

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: [email protected].

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

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Line*
Female
Genetic Variation*
Humans
Induced Pluripotent Stem Cells* / metabolism
Induced Pluripotent Stem Cells* / pathology
NAV1.8 Voltage-Gated Sodium Channel* / genetics
NAV1.8 Voltage-Gated Sodium Channel* / metabolism
Small Fiber Neuropathy* / genetics
Small Fiber Neuropathy* / metabolism
Small Fiber Neuropathy* / pathology

Substances

NAV1.8 Voltage-Gated Sodium Channel
SCN10A protein, human