Generation of an induced pluripotent stem cell line (ZSPHARi002-A) from a patient with autosomal dominant polycystic kidney disease carrying a heterozygous PKD1 mutation
Autosomal dominant polycystic kidney disease (ADPKD), a single-gene-inherited kidney disease, is a common cause of end-stage kidney disease (ESKD). The PKD1 gene mutation is the most common cause of ADPKD, accounting for approximately 78% of cases. ADPKD is characterized by the scattered distributio...
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Veröffentlicht in: | Stem cell research 2024-12, Vol.82, p.103643, Article 103643 |
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Hauptverfasser: | , , , , , , |
Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | Autosomal dominant polycystic kidney disease (ADPKD), a single-gene-inherited kidney disease, is a common cause of end-stage kidney disease (ESKD). The PKD1 gene mutation is the most common cause of ADPKD, accounting for approximately 78% of cases. ADPKD is characterized by the scattered distribution of multiple cysts in the renal parenchyma ultimately leading to ESKD. We collected peripheral blood mononuclear cells from a patient with ADPKD who carries a heterozygous PKD1 mutation and reprogrammed them into induced pluripotent stem cells (iPSCs). iPSC lines can provide a valuable resource for studying the pathogenesis of ADPKD and for drug screening purposes. |
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ISSN: | 1873-5061 1876-7753 1876-7753 |
DOI: | 10.1016/j.scr.2024.103643 |