Establishment of iPS cell line (KLRMMEi003-A) from a patient with Usher syndrome due to USH2A mutation
Luyin Chen1, Jianing Wang1, Tingting Yang1
1Ophthalmology Department, The First Affiliated Hospital of Jinan University, Guangzhou, China.
Abstract:
We generated an induced pluripotent stem (iPS) cell line by reprogramming peripheral blood mononuclear cells of a patient with Usher syndrome type II carrying USH2A gene mutation (c.8559-2A > G). The iPS cell line with confirmed patient-specific point mutation exhibited typical iPS cell characteristics and maintained a normal karyotype. It can be used as 2D and 3D models to investigate the underlying pathogenic mechanism and lay a solid foundation for future personalized therapy.
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