Generation of a human iPSC line from a Bardet-Biedl syndrome patient compound heterozygous for the BBS7 variants c.849 + 1G > C/c.754G > A
Summary
Bardet-Biedl syndrome (BBS) is primarily a multisystem nonmotile ciliopathy. In this study, we describe the successful establishment and characterization of an iPSC line from a patient diagnosed with BBS who was compound heterozygous for the BBS7 variants c.849 + 1G > C (splicing) and c.754G > A (p.D252N). Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Fu Q, Wang H, Zhou N, Jiang Y, Liang Y, Duan F, Mi L |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 Jul;54:102428 |
| PubMed | 34146953 |
| DOI | 10.1016/j.scr.2021.102428 |