Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene
Summary
Mutations in the USH2A gene are the most common cause of Usher syndrome and autosomal recessive non-syndromic retinitis pigmentosa. Here, we describe the generation of three induced pluripotent stem cell lines from dermal fibroblasts derived from a patient carrying biallelic c.949C > A and c.1256G > T variants in the USH2A gene, using episomal reprogramming plasmids expressing OCT4, SOX2, KLF4, MYCL, LIN28, mir302/367 and shRNA targeting TP53. All three lines expressed pluripotency markers, displayed unaltered karyotypes as well as trilineage differentiation potential, and were negative for reprogramming episomes and mycoplasma. Copyright © 2020. Published by Elsevier B.V.
| Authors | Zaw K, Wong EYM, Zhang X, Zhang D, Chen SC, Thompson JA, Lamey T, McLaren T, De Roach JN, Wilton SD, Fletcher S, Mitrpant C, Atlas MD, Chen FK, McLenachan S |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2020 Dec 16;50:102129 |
| PubMed | 33360097 |
| DOI | 10.1016/j.scr.2020.102129 |