Work

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

Year: 2024

Type: article

Abstract: 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.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2024.103567

Authors: Bhaskar Jyoti Saikia, Juhi Bhardwaj, Arti Saini, Roopa Rajan, Binukumar B.K

Institutions: Institute of Genomics and Integrative Biology, Council of Scientific and Industrial Research, Academy of Scientific and Innovative Research, All India Institute of Medical Sciences

Language: English

Topic: Pluripotent Stem Cells Research

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,320