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Generation of an induced pluripotent stem cell line (DHMCi006-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a compound heterozygous missense mutation in the fibrocystin encoding PKHD1 gene

Mutations in the PKHD1 gene, encoding for the ciliary protein fibrocystin, play a major role in the cystogenesis in autosomal recessive polycystic kidney disease (ARPKD), a severe pediatric kidney disorder. Peripheral blood mononuclear cells (PBMCs) from a female patient carrying a compound heterozy...

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Main Authors: Fluhr, Theresa (Author) , Tabatabaeifar, Mansoureh (Author) , Syring, Hanna (Author) , Göhring, Gudrun (Author) , Schaefer, Franz (Author) , Jung-Klawitter, Sabine (Author)
Format: Article (Journal)
Language:English
Published: 18 October 2021
In: Stem cell research
Year: 2021, Volume: 57, Pages: 1-5
ISSN:1876-7753
DOI:10.1016/j.scr.2021.102579
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.scr.2021.102579
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S1873506121004268
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Author Notes:Theresa Leonie Fluhr, Mansoureh Tabatabaeifar, Hanna Syring, Gudrun Göhring, Franz Schaefer, Sabine Jung-Klawitter

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