Establishment of iPS cell line (KLRMMEi002-A) by reprogramming peripheral blood mononuclear cells from a patient with USH2A-associated Usher syndrome.

Liying Liang, Yunxia Xue, Caiying Su, Jianing Wang, Luyin Chen, Ting Su, Jianyu Ke, Linyao Xie, Zekai Cui, Quan Yu, Hon Fai Chan, Jingxiang Zhong, Yonglong Guo, Jiansu Chen

Stem cell research 2022 Apr

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USH type 2 (USH2) is an autosomal recessive disorder that is characterized by inherited retinopathies and sensorineural hearing loss. USH type 2 (USH2) is frequently caused by USH2A mutations, which account for 74-90% of USH2 cases. We used peripheral blood mononuclear cells (PBMCs) from a USH2 patient with a USH2A gene mutation (c.8559-2A > G) to create an induced pluripotent stem (iPS) cell line. The patient-specific iPS cell line with the specific point mutation exhibited typical iPS cell characteristics, and it can be used as a model to investigate the pathogenic mechanisms underlying USH2A-associated retinal degeneration and sensorineural hearing loss. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Citation

Liying Liang, Yunxia Xue, Caiying Su, Jianing Wang, Luyin Chen, Ting Su, Jianyu Ke, Linyao Xie, Zekai Cui, Quan Yu, Hon Fai Chan, Jingxiang Zhong, Yonglong Guo, Jiansu Chen. Establishment of iPS cell line (KLRMMEi002-A) by reprogramming peripheral blood mononuclear cells from a patient with USH2A-associated Usher syndrome. Stem cell research. 2022 Apr;60:102699