Generation of induced pluripotent stem cells from a Bardet-Biedl syndrome patient carrying a homologous BBS2 c.534 + 1G > T mutation
Summary
Bardet-Biedl syndrome is a autosomal recessive hereditary disorder characterized by polydactyly, multiple renal cysts, retinal cone-rod dystrophy, obesity, and variable neural development or cognitive impairment. We reported the generation and characterization of an iPS cell line, IBMS-iPSC-063-06, from a patient carrying the BBS2 homologous c534 + 1G > T mutation. The generated iPS cell line retains the mutation and exhibits pluripotency and differentiation ability both in vivo and in vitro condition. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Ting CY, Huang CY, Chen HC, Chiu YW, Hsieh PCH, Lee JJ |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 Aug;55:102480 |
| PubMed | 34364070 |
| DOI | 10.1016/j.scr.2021.102480 |