| Autor: |
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 |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Stem Cell Research, Vol 60, Iss , Pp 102699- (2022) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2022.102699 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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