Generation of induced pluripotent stem cells (iPSCs) from a microvillus inclusion disease patient with a homozygous missense mutation in UNC45A
Summary
Mutations in UNC45A, a co-chaperone for myosins, were recently found causative of a syndrome combining cholestasis, diarrhea, loss of hearing and bone fragility. We generated induced pluripotent stem cells (iPSCs) from a patient with a homozygous missense mutation in UNC45A. Cells from this patient, which were reprogrammed using integration-free Sendaï virus, have normal karyotype, express pluripotency markers and are able to differentiate into the three germ cell layers. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Banal C, Quelennec E, Talbotec C, Khiat A, Charbit-Henrion F, Cerf-Bensussan N, Lefort N, Lebreton C |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Apr;68:103057 |
| PubMed | 36868038 |
| DOI | 10.1016/j.scr.2023.103057 |