Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene

被引：3

作者：

Zaw, Khine ^{[1
,2
,3
]}

Wong, Elaine Y. M. ^{[4
,5
,6
]}

Zhang, Xiao ^{[1
,7
]}

Zhang, Dan ^{[1
]}

Chen, Shang-Chih ^{[1
]}

Thompson, Jennifer A. ^{[8
]}

Lamey, Tina ^{[7
,8
]}

McLaren, Terri ^{[7
,8
]}

De Roach, John N. ^{[7
,8
]}

Wilton, Steve D. ^{[2
,9
,10
]}

Fletcher, Sue ^{[2
,9
,10
]}

Mitrpant, Chalermchai ^{[3
,9
,10
]}

Atlas, Marcus D. ^{[4
,6
]}

Chen, Fred K. ^{[1
,7
,8
,11
,12
]}

McLenachan, Samuel ^{[1
,7
]}

机构：

[1] Lions Eye Inst, Ocular Tissue Engn Lab, Nedlands, WA, Australia

[2] Murdoch Univ, Ctr Mol Med & Innovat Therapeut, Murdoch, WA, Australia

[3] Mahidol Univ, Fac Med, Dept Biochem, Siriraj Hosp, Bangkok, Thailand

[4] Ear Sci Inst Australia, Nedlands, WA, Australia

[5] Curtin Univ, Fac Hlth Sci, Sch Pharm & Biomed Sci, Bentley, WA, Australia

[6] Univ Western Australia, Ear Sci Ctr, Nedlands, WA, Australia

[7] Univ Western Australia, Ctr Ophthalmol & Visual Sci, Nedlands, WA, Australia

[8] Sir Charles Gairdner Hosp, Dept Med Technol & Phys, Australian Inherited Retinal Dis Registry & DNA B, Perth, WA, Australia

[9] Univ Western Australia, Perron Inst Neurol & Translat Sci, Perth, WA, Australia

[10] Univ Western Australia, Ctr Neuromuscular & Neurol Disorders, Perth, WA, Australia

[11] Royal Perth Hosp, Dept Ophthalmol, Perth, WA, Australia

[12] Perth Childrens Hosp, Dept Ophthalmol, Nedlands, WA, Australia

来源：

STEM CELL RESEARCH | 2021年 / 50卷

基金：

英国医学研究理事会;

关键词：

D O I：

10.1016/j.scr.2020.102129

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

Mutations in the USH2A gene are the most common cause of Usher syndrome and autosomal recessive non-syndromic retinitis pigmentosa. Here, we describe the generation of three induced pluripotent stem cell lines from dermal fibroblasts derived from a patient carrying biallelic c.949C > A and c.1256G > T variants in the USH2A gene, using episomal reprogramming plasmids expressing OCT4, SOX2, KLF4, MYCL, LIN28, mir302/367 and shRNA targeting TP53. All three lines expressed pluripotency markers, displayed unaltered karyotypes as well as trilineage differentiation potential, and were negative for reprogramming episomes and mycoplasma.

引用

页数：5

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Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C &gt; A and c.1256G &gt; T mutations in the USH2A gene

Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene