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Establishment of iPS cell line (KLRMMEi003-A) from a patient with Usher syndrome due to USH2A mutation.

Stem cell research - 1 Apr 2023

Chen Luyin, Wang Jianing, Yang Tingting, Xie Linyao, Cui Zekai, Yu Quan, Zhong Jingxiang, Chan Hon Fai, Xue Yunxia, Guo Yonglong, Chen Jiansu

Abstract excerpt

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...

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Identifiers

PMID: 36863132
DOI: 10.1016/j.scr.2023.103055

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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