Generation of an induced pluripotent stem cell (iPSC) line (IGIBi026-A) derived from Wilson disease patient harboring compound heterozygous mutations [c.2165dupT (p.R723Efs31) and c.C813A (p.C271*)] in the ATP7B gene
Summary
Wilson disease (WD) is a rare autosomal recessive disease caused due to mutations in the ATP7B gene. Here, we describe the establishment of an induced pluripotent stem cell (iPSC) line derived from peripheral blood mononuclear cells (PBMCs) of a WD patient with compound heterozygous mutations in the ATP7B gene [c.2165dup (p.R723Efs31) and c.C813A (p.C271*)] by using integration-free Sendai virus reprogramming system. Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Jyoti Saikia B, Bhardwaj J, Saini A, Rajan R, B K B |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Dec;81:103567 |
| PubMed | 39326255 |
| DOI | 10.1016/j.scr.2024.103567 |