Generation of induced pluripotent stem cells from a Bardet-Biedl syndrome patient carrying a homologous BBS2 c.534 + 1G > T mutation


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

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