Generation of induced pluripotent stem cell line (UKWNLi008) derived from a patient carrying a c.1678C>G variant in the transient receptor potential cation channel subfamily A member (TRPA1) gene potentially associated with small fiber neuropathy

诱导性多能干细胞系 (UKWNLi008) 的生成源自携带瞬时受体电位阳离子通道亚家族 A 成员 (TRPA1) 基因 c.1678C>G 变异的患者,该基因可能与小纤维神经病变有关

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作者:Nicole Michelle Schottmann, Katharina Klug, Eva Klopocki, Nurcan Üçeyler

Abstract

Using human dermal fibroblasts (hdF) derived from a patient carrying a c.1678C>G variant located in the TRPA1 gene, induced pluripotent stem cells (iPSC) were generated. Cells were reprogrammed via non-modified (NM) RNA-based transfection resulting in three clones. All three clones showed typical embryonic stem cell-like properties including expression of pluripotency markers, morphology, normal karyotype, and potential differentiation in all three germ layers. With this novel cell line, we offer an in vitro option to study TRPA1 gene variant c.1678C>G and its potential involvement in the development of neuropathic pain as a symptom of small fiber neuropathy (SFN).

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