Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461-10T>C;5603A>T]; [6077T>C] mutations in the ABCA4 gene

被引：2

作者：

Huang, Di ^{[1
,2
]}

Zhang, Dan ^{[1
]}

Chen, Shang-Chih ^{[1
]}

Aung-Htut, May Thandar ^{[2
,3
]}

Lamey, Tina M. ^{[4
,5
]}

Thompson, Jennifer A. ^{[5
]}

McLaren, Terri L. ^{[4
,5
]}

De Roach, John N. ^{[4
,5
]}

Fletcher, Sue ^{[2
]}

Wilton, Steve D. ^{[2
,3
]}

McLenachan, Samuel ^{[1
,4
]}

Chen, Fred K. ^{[1
,4
,5
,6
,7
]}

机构：

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

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

[3] Univ Western, Perron Inst Neurol & Translat Sci, Ctr Neuromuscular & Neurol Disorders, Nedlands, WA, Australia

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

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

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

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

来源：

STEM CELL RESEARCH | 2021年 / 54卷

基金：

英国医学研究理事会;

关键词：

D O I：

10.1016/j.scr.2021.102439

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

Mutations in ABCA4 gene are causative for autosomal recessive Stargardt disease (STGD1), the most common inherited retinal dystrophy. Here, we report the generation of an induced pluripotent stem cell (iPSC) line from a STGD1 patient carrying biallelic c.[5461-10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene. Episomes carrying OCT4, SOX2, KLF4, L-MYC, LIN28 and mp53DD were employed for the reprogramming of patient-derived fibroblasts. This iPSC line expressed comparable pluripotency markers as in a commercially available human iPSC line, displayed normal karyotype and potential for trilineage differentiation, and were negative for both reprogramming episomes and mycoplasma test.

引用

页数：4

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Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461-10T&gt;C;5603A&gt;T]; [6077T&gt;C] mutations in the ABCA4 gene

Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461-10T>C;5603A>T]; [6077T>C] mutations in the ABCA4 gene