Generation of the human induced pluripotent stem cell line UKWNLi002-A from dermal fibroblasts of a woman with a heterozygous c.608 C>T (p.Thr203Met) mutation in exon 3 of the nerve growth factor gene potentially associated with hereditary sensory and autonomic neuropathy type 5

从一名女性的真皮成纤维细胞中生成人类诱导性多能干细胞系 UKWNLi002-A,该女性的神经生长因子基因外显子 3 中存在杂合 c.608 C>T(p.Thr203Met)突变,该突变可能与 5 型遗传性感觉和自主神经病变有关

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作者:Thomas Klein, Lisa Henkel, Katharina Klug, Chee Keong Kwok, Eva Klopocki, Nurcan Üçeyler

Abstract

In this study, we report the human induced pluripotent stem cell line (iPSC) HSAN5-T203 M-iPSC, generated from human dermal fibroblasts (HDF) of a woman carrying a heterozygous c.608C > T mutation in the nerve growth factor gene potentially associated with hereditary sensory and autonomic neuropathy type 5 (HSAN5). HDF were reprogrammed using transient expression of key transcription factors for pluripotency and immune evasion via transfection of synthetic mRNA and miRNA. HSAN5-T203 M-iPSC retained the disease-associated genotype c.608C > T, while maintaining a normal karyotype, showed robust and abundant expression of pluripotency-associated markers and could be differentiated into cells of all three germ layers.

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