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Stem Cell Res. 2018 Dec;33:171-174. doi: 10.1016/j.scr.2018.10.017. Epub 2018 Oct 12.

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.

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, Biocentre, University of Würzburg, Würzburg, Germany.
4
Department of Neurology, University of Würzburg, Würzburg, Germany. Electronic address: ueceyler_n@ukw.de.

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.

PMID:
30384131
DOI:
10.1016/j.scr.2018.10.017
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