Generation of two induced pluripotent stem cell lines from an Usher syndrome type 1B patient with the homozygous c.496del MYO7A variant
Summary
Usher syndrome (USH) is the most common cause of inherited deaf-blindness. Here, we produced the LEIi020-A and LEIi020-B induced pluripotent stem cell (iPSC) lines from dermal fibroblasts derived from a patient with USH1B caused by inheritance of homozygous c.496del variants in MYO7A using episomal plasmids encoding OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for TP53. Both iPSC lines expressed pluripotency markers, demonstrated trilineage differentiation potential and displayed a 46,XY karyotype. These cell lines represent a valuable resource for the production of retinal and otic tissues to support research into the pathogenesis and treatment of USH1B. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Wong EYM, Khoh XE, Chen SC, Lye J, Leith FK, Zhang D, Lamey TM, Thompson JA, McLaren TL, Atlas MD, Chen FK, McLenachan S |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Sep;79:103492 |
| PubMed | 39013239 |
| DOI | 10.1016/j.scr.2024.103492 |