Generation of an induced pluripotent stem cell line, LGMi002-A, from a Bardet-Biedl Syndrome patient with a BBS5 homozygous pathogenic variant
Summary
The human induced pluripotent stem cell (iPSC) line, iPSC-BBS5stbg1, derived from a patient with a Bardet-Biedl Syndrome (BBS) phenotype and carrying a BBS5 homozygous pathogenic variant: c.123delA, p.Gly42Glufs*11 is described. The reprogramming of the patient's dermal fibroblasts was achieved using the non-integrative Sendai virus system delivering the OCT4, SOX2, KLF4 and c-MYC (OSKM) transcription factors. The established iPSC line iPSC-BBS5stbg1 displays typical iPSC morphology, maintains genomic stability, and demonstrates the ability to differentiate into cell types representative of the three embryonic germ layers. This iPSC line constitutes robust and relevant cellular model for studying BBS-associated disease mechanisms and ciliary dysfunction. Copyright © 2026 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Secula S, Erkilic N, Obringer C, Muller J, Kalatzis V, Dollfus H |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Jun 22;95:104046 |
| PubMed | 42364509 |
| DOI | 10.1016/j.scr.2026.104046 |