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

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...

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Veröffentlicht in:Stem cell research 2024-12, Vol.81, p.103567, Article 103567
Hauptverfasser: Jyoti Saikia, Bhaskar, Bhardwaj, Juhi, Saini, Arti, Rajan, Roopa, B.K, Binukumar
Format: Artikel
Sprache:eng
Schlagworte:
Cell Line
Copper-Transporting ATPases - genetics
Female
Hepatolenticular Degeneration - genetics
Hepatolenticular Degeneration - pathology
Heterozygote
Humans
Induced Pluripotent Stem Cells - metabolism
Male
Mutation
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Zusammenfassung: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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2024.103567