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

Stem cell research - 1 Aug 2021

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

Abstract excerpt

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...

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Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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