Establishment and characterization of ZJUCHi003: an induced pluripotent stem cell line from a patient with Temple –Baraitser/Zimmermann–Laband syndrome carrying KCNH1 c.1070G  & gt;  A (p.R357Q) variant

This study established an induced pluripotent stem cell (iPSC) line using urinary cells from a girl withKCNH1 recurrent/hotspot pathogenic variant c.1070G  >  A (p.R357Q). The cell identity, pluripotency, karyotypic integrity, absence of reprogramming virus and mycoplasma contamination, and differential potential to three germ layers of the iPSC line, named as ZJUCHi003, were characterized and confirmed. Furthermore, ZJUCHi003-derived neurons manifeste d slower action potential repolarization process and wider action potential half-width than the normal neurons. This cell line will be useful for investigating the pathogenic mechanisms ofKCNH1 variants-associated symptoms, as well as for evaluating novel therapeutic approaches.
Source: Human Cell - Category: Cytology Source Type: research