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


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

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