4.2 Article

Generation of two induced pluripotent stem cell lines from a patient with compound heterozygous mutations in the USH2A gene

期刊

STEM CELL RESEARCH
卷 36, 期 -, 页码 -

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ELSEVIER
DOI: 10.1016/j.scr.2019.101420

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资金

  1. National Health and Medical Research Council of Australia [1142962, 1116360]
  2. Garnett Passe and Rodney Williams Memorial Foundation (Conjoint Grant 2018, Australia)
  3. Stan Perron Charitable Foundation (Australia)
  4. Constantine family
  5. Saleeba family
  6. Bone family

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The human iPSC lines LEIi010-A and LEIi010-B were generated from the dermal fibroblasts of a patient with Usher syndrome using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for p53. These iPSC lines carry compound heterozygous mutations (c.949C > A and c.1256G > T) in USH2A. LEIi010-A and LEIi010-B expressed pluripotent stem cell markers, had a normal karyotype and could be differentiated into endoderm, mesoderm and ectodermal lineages.

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