Generation of two human induced pluripotent stem cell lines from patients with biallelic USH2A variants

被引:1
作者
Zhu, Tian [1 ]
Wu, Shijing [1 ]
Sun, Zixi [1 ]
Wei, Xing [1 ]
Han, Xiaoxu [1 ]
Zou, Xuan [1 ]
Sui, Ruifang [1 ]
机构
[1] Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Ophthalmol, State Key Lab Complex Severe & Rare Dis, Beijing, Peoples R China
关键词
D O I
10.1016/j.scr.2021.102502
中图分类号
Q813 [细胞工程];
学科分类号
摘要
Usher syndrome 2A (USH2A) is one of the most common genes associated with Usher syndrome type II (USH2) and nonsyndromic autosomal recessive retinitis pigmentosa (arRP). Here, we describe the generation and characterization of two human induced pluripotent stem cell (hiPSC) lines from a RP patient with compound heterogeneous USH2A variants and a USH2 patient with homozygous USH2A variant. Blood samples were obtained and peripheral blood mononuclear cells (PBMCs) were reprogrammed using the non-integrative Sendai virus to generate the iPSC lines. The established hiPSC lines retained the disease-associated variants and showed normal karyotype, pluripotency and differentiation capacity.
引用
收藏
页数:4
相关论文
共 4 条
  • [1] Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing
    Huang, Xiu-Feng
    Huang, Fang
    Wu, Kun-Chao
    Wu, Juan
    Chen, Jie
    Pang, Chi-Pui
    Lu, Fan
    Qu, Jia
    Jin, Zi-Bing
    [J]. GENETICS IN MEDICINE, 2015, 17 (04) : 271 - 278
  • [2] Rosenberg T, 1997, CLIN GENET, V51, P314
  • [3] The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients
    Zhao, Yang
    Hosono, Katsuhiro
    Suto, Kimiko
    Ishigami, Chie
    Arai, Yuuki
    Hikoya, Akiko
    Hirami, Yasuhiko
    Ohtsubo, Masafumi
    Ueno, Shinji
    Terasaki, Hiroko
    Sato, Miho
    Nakanishi, Hiroshi
    Endo, Shiori
    Mizuta, Kunihiro
    Mineta, Hiroyuki
    Kondo, Mineo
    Takahashi, Masayo
    Minoshima, Shinsei
    Hotta, Yoshihiro
    [J]. JOURNAL OF HUMAN GENETICS, 2014, 59 (09) : 521 - 528
  • [4] USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
    Zhu, Tian
    Chen, De-Fu
    Wang, Lei
    Wu, Shijing
    Wei, Xing
    Li, Hui
    Jin, Zi-Bing
    Sui, Ruifang
    [J]. BRITISH JOURNAL OF OPHTHALMOLOGY, 2021, 105 (05) : 694 - 703