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

Qian Fu; Hui Wang; Nan Zhou; Yeping Jiang; Ying Liang; Fan Duan; Lan Mi

doi:10.1016/j.scr.2021.102428

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

Stem Cell Res. 2021 Jul:54:102428. doi: 10.1016/j.scr.2021.102428. Epub 2021 Jun 15.

Authors

Qian Fu¹, Hui Wang², Nan Zhou¹, Yeping Jiang¹, Ying Liang¹, Fan Duan³, Lan Mi³

Affiliations

¹ Department 2 of Nephrology, Beijing Children's Hospital Affiliated to Capital Medical University, Beijing Key Laboratory for Chronic Renal Disease and Blood Purification, Key Laboratory of Major Diseases in Children, Ministry of Education, National Center for Children's Health, China.
² Department 2 of Nephrology, Beijing Children's Hospital Affiliated to Capital Medical University, Beijing Key Laboratory for Chronic Renal Disease and Blood Purification, Key Laboratory of Major Diseases in Children, Ministry of Education, National Center for Children's Health, China. Electronic address: wanghui@bch.com.cn.
³ School of Pediatrics, Capital Medical University, China.

PMID: 34146953
DOI: 10.1016/j.scr.2021.102428

Abstract

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).

MeSH terms

Adaptor Proteins, Signal Transducing
Bardet-Biedl Syndrome* / genetics
Cytoskeletal Proteins / genetics
Humans
Induced Pluripotent Stem Cells*
Mutation

Substances

Adaptor Proteins, Signal Transducing
Bbs7 protein, human
Cytoskeletal Proteins