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

• DOI: 10.1007/s13577-024-01031-8
• Publication Date: 2024-02-19T16:03:12Z
• Authors: Die Chen; Jimei Su; Xueying Huang; Hongyu Chen; Tiejia Jiang; Chunchun Zhi; Zuolin Zhou; Bing Zhang; Lan Yu; Xiaoling Jiang
• Keywords: Craniofacial Abnormalities; Thumb; Intellectual Disability; Induced Pluripotent Stem Cells; Mutation; Humans; Nails, Malformed; Hallux; Female; Abnormalities, Multiple; Hand Deformities, Congenital; Ether-A-Go-Go Potassium Channels; Fibromatosis, Gingival

Pathogenic variants of the KCNH1 gene can cause dominant-inherited Temple-Baraitser/Zimmermann-Laband syndrome with severe mental retardation, seizure, gingival hyperplasia and nail hypoplasia. This study established an induced pluripotent stem cell (iPSC) line using urinary cells from a girl with KCNH1 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 manifested 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 of KCNH1 variants-associated symptoms, as well as for evaluating novel therapeutic approaches.