Establishment of a human induced pluripotent stem cell line (SDQLCHi079-A) from a patient with Johanson-Blizzard syndrome carrying heterozygous mutation in UBR1 gene
Summary
Johanson-Blizzard syndrome (JBS) is an autosomal recessive disorder. We established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a 2-year-old boy with Johanson-Blizzard syndrome carrying a compound heterozygous mutation of c.3167C>G (p.S1056X) and c.1911 + 14C>G(splicing) in the UBR1 gene. This iPSC line was free of exogenous gene, expressed stemness markers, exhibited differentiation potential, had normal karyotype and harbored the same mutations found in the patient. The iPSC cellline can serve as a disease model in drug development and novel personalized therapies. Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Wang B, Yang L, Gao M, Zhang H, Ji A, Liu G, Liu Y |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Oct;80:103505 |
| PubMed | 39053320 |
| DOI | 10.1016/j.scr.2024.103505 |