Related Experiment Video
Updated: Nov 27, 2025

Establishment of Genome-edited Human Pluripotent Stem Cell Lines: From Targeting to Isolation
Published on: February 2, 2016
Generation of a human induced pluripotent stem cell line (SBWCHi001-A) from a patient with NEDSDV carrying a
Rui Yan1, Pengyu Liu2, Fake Li1
1Central Laboratory, Shenzhen Baoan Women's and Children's Hospital, Jinan University, Shenzhen 518102, China.
Abstract:
Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) is a rare disease. Patients with NEDSDV are usually accompanied by microcephaly, severe mental retardation, spasticity, and global developmental delay. Recent studies showed that mutations in CTNNB1 are responsible for the phenotype. Here, we generated an induced pluripotent stem cell (iPSC) line (SBWCHi001-A) from an 18-month-old patient with NEDSDV, who harbored a de novo heterozygous mutation in CTNNB1. The transduced iPSCs expressed pluripotency markers, and could differentiate into three germ layers in vitro. This cell line will be a cell model to explore the pathogenesis of NEDSDV and discover potential therapies.
More Related Videos
Related Concept Videos
Induced Pluripotent Stem Cells
Somatic...
Induced Pluripotent Stem Cells
iPS Cell Differentiation
EPS and iPS Cells in Disease Research

