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Article

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 research - 1 Jul 2021

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

Abstract excerpt

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).

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Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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