Buchumschlag

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

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 iPSC...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Tabatabaeifar, Mansoureh (VerfasserIn) , Fluhr, Theresa (VerfasserIn) , Syring, Hanna (VerfasserIn) , Göhring, Gudrun (VerfasserIn) , Schaefer, Franz (VerfasserIn) , Jung-Klawitter, Sabine (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 16 October 2021
In: Stem cell research
Year: 2021, Jahrgang: 57, Pages: 1-5
ISSN:1876-7753
DOI:10.1016/j.scr.2021.102573
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.scr.2021.102573
Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S1873506121004207
Volltext
Verfasserangaben:Mansoureh Tabatabaeifar, Theresa Leonie Fluhr, Hanna Syring, Gudrun Göhring, Franz Schaefer, Sabine Jung-Klawitter
Beschreibung
Zusammenfassung: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.
Beschreibung:Gesehen am 01.12.2021
Beschreibung:Online Resource
ISSN:1876-7753
DOI:10.1016/j.scr.2021.102573

Ähnliche Einträge