Generation of an induced pluripotent stem cell line (DHMCi007-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a homozygous missense mutation in the fibrocystin-encoding PKHD1 gene

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

doi:10.1016/j.scr.2021.102573

Generation of an induced pluripotent stem cell line (DHMCi007-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a homozygous missense mutation in the fibrocystin-encoding PKHD1 gene

Stem Cell Res. 2021 Dec:57:102573. doi: 10.1016/j.scr.2021.102573. Epub 2021 Oct 16.

Authors

Mansoureh Tabatabaeifar¹, Theresa Leonie Fluhr¹, 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: sabine.jung-klawitter@med.uni-heidelberg.de.

PMID: 34688127
DOI: 10.1016/j.scr.2021.102573

Abstract

Autosomal recessive polycystic kidney disease (ARPKD) is a severe pediatric kidney disorder primarily caused by mutations in the fibrocystin-encoding PKHD1 gene. It is characterized by the progressive development of cysts, eventually leading to renal failure. In order to create patient specific iPSCs, peripheral blood mononuclear cells (PBMCs) from a female patient carrying a homozygous PKHD1 mutation (c.8285A>T(;)(8285A>T)) were reprogrammed using the non-integral Cytotune®-iPS 2.0 Sendai Reprogramming Kit (Invitrogen). Morphology and karyotype of the cells are normal. Pluripotency hallmarks as well as the potential to spontaneously differentiate into all three germ layers were shown by immunofluorescence staining and RT-PCR.