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

Theresa Leonie Fluhr; Mansoureh Tabatabaeifar; Hanna Syring; Gudrun Göhring; Franz Schaefer; Sabine Jung-Klawitter

doi:10.1016/j.scr.2021.102579

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

Stem Cell Res. 2021 Dec:57:102579. doi: 10.1016/j.scr.2021.102579. Epub 2021 Oct 18.

Authors

Theresa Leonie Fluhr¹, Mansoureh Tabatabaeifar¹, Hanna Syring², Gudrun Göhring², Franz Schaefer¹, Sabine Jung-Klawitter³

Affiliations

¹ Center for Child and Adolescent Medicine, Department of Pediatric Nephrology, University Hospital Heidelberg, 69120 Heidelberg, Germany.
² Department of Human Genetics, Hannover Medical School (MHH), 30625 Hannover, Germany.
³ Center for Child and Adolescent Medicine, Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany. Electronic address: [email protected].

PMID: 34695767
DOI: 10.1016/j.scr.2021.102579

Abstract

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 heterozygous PKHD1 mutation (c.6331A>G(;)7717C>T) were obtained and reprogrammed by viral transduction using the Cytotune®-iPS 2.0 Sendai Reprogramming Kit (Invitrogen). The resulting iPSCs display a normal karyotype, express pluripotency markers, and show the potential for spontaneous differentiation in vitro, offering a useful tool for studying ARPKD pathomechanisms and drug screening.