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
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.
Authors
- Juhi Bhardwaj
- Bhaskar Jyoti Saikia (ORCID: https://orcid.org/0000-0003-0937-0537)
- Roopa Rajan (ORCID: https://orcid.org/0000-0003-4987-7252)
- Binukumar BK (ORCID: https://orcid.org/0000-0003-0933-4691)
- Arti Saini (ORCID: https://orcid.org/0000-0001-5223-9206)
Institutions
- Institute of Genomics and Integrative Biology (IN)
- All India Institute of Medical Sciences (IN)
- Academy of Scientific and Innovative Research (IN)
Publication Details
- Journal
- Stem Cell Research
- Published
- 2024-09-23
- DOI
- https://doi.org/10.1016/j.scr.2024.103567
- Primary Topic
- Trace Elements in Health
- Type
- article
- Field-Weighted Citation Impact
- 0.00