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
Summary
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. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Klein T, Henkel L, Klug K, Kwok CK, Klopocki E, Üçeyler N |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2018 Dec;33:171-174 |
| PubMed | 30384131 |
| DOI | 10.1016/j.scr.2018.10.017 |