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

Chien-Yu Ting; Ching-Ying Huang; Hung-Chih Chen; Yi-Wen Chiu; Patrick C H Hsieh; Jia-Jung Lee

doi:10.1016/j.scr.2021.102480

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

Stem Cell Res. 2021 Aug:55:102480. doi: 10.1016/j.scr.2021.102480. Epub 2021 Jul 30.

Authors

Chien-Yu Ting¹, Ching-Ying Huang¹, Hung-Chih Chen², Yi-Wen Chiu³, Patrick C H Hsieh¹, Jia-Jung Lee⁴

Affiliations

¹ Human Disease iPSC Service Consortium, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
² Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
³ Division of Nephrology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan; Faculty of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan; Faculty of Renal Care, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
⁴ Division of Nephrology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan; Faculty of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan; Faculty of Renal Care, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan; Regenerative Medicine and Cell Therapy Research Center, Kaohsiung Medical University, Kaohsiung, Taiwan. Electronic address: [email protected].

PMID: 34364070
DOI: 10.1016/j.scr.2021.102480

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Bardet-Biedl Syndrome* / genetics
Humans
Induced Pluripotent Stem Cells*
Mutation