Generation of the induced pluripotent stem cell line from a patient with autosomal recessive ABCA4-mediated Stargardt Macular Dystrophy

被引：9

作者：

Claassen, Johann N. ^{[1
,2
]}

Zhang, Dan ^{[2
]}

Chen, Shang-Chih ^{[2
]}

Moon, Sang Yoon ^{[1
,2
]}

Lamey, Tina ^{[1
,3
]}

Thompson, Jennifer A. ^{[3
]}

McLaren, Terri ^{[3
]}

De Roach, John N. ^{[1
,3
]}

McLenachan, Samuel ^{[1
,2
]}

Chen, Fred K. ^{[1
,2
,3
,4
]}

机构：

[1] Univ Western Australia, Ctr Ophthalmol & Visual Sci, Perth, WA, Australia

[2] Lions Eye Inst, Nedlands, WA, Australia

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

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

来源：

STEM CELL RESEARCH | 2019年 / 34卷

基金：

英国医学研究理事会;

关键词：

D O I：

10.1016/j.scr.2018.11.013

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

We report the generation of the human iPSC line LEIi007-A from a patient with autosomal recessive Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene (c.[5461-10 T > C];[4139C > T]). Reprogramming of patient dermal fibroblasts was performed using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, shRNA for p53 and mir302/367 microRNA to establish the clonal iPSC line LEIl007-A. LEIl007-A displayed normal pluripotent stem cell colony morphology, expressed pluripotent stem cell markers, displayed a normal karyotype and differentiated into ectodermal, mesodermal and endodermal germ layer lineages.

引用

页数：5

共 4 条

[1] In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases [J].

Cornelis, Stephanie S. ;

Bax, Nathalie M. ;

Zernant, Jana ;

Allikmets, Rando ;

Fritsche, Lars G. ;

den Dunnen, Johan T. ;

Ajmal, Muhammad ;

Hoyng, Carel B. ;

Cremers, Frans P. M. .

HUMAN MUTATION, 2017, 38 (04) :400-408

[2] The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients [J].

Fakin, Ana ;

Robson, Anthony G. ;

Chiang, John ;

Fujinami, Kaoru ;

Moore, Anthony T. ;

Michaelides, Michel ;

Holder, Graham E. ;

Webster, Andrew R. .

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2016, 57 (14) :5963-5973

[3] Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T → C Mutation in Stargardt Disease [J].

Sangermano, Riccardo ;

Bax, Nathalie M. ;

Bauwens, Miriam ;

van den Born, L. Ingeborgh ;

De Baere, Elfride ;

Garanto, Alejandro ;

Collin, Rob W. J. ;

Goercharn-Ramlal, Angelique S. A. ;

den Engelsman-van Dijk, Anke H. A. ;

Rohrschneider, Klaus ;

Hoyng, Carel B. ;

Cremers, Frans P. M. ;

Albert, Silvia .

OPHTHALMOLOGY, 2016, 123 (06) :1375-1385

[4] Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options [J].

Tanna, Preena ;

Strauss, Rupert W. ;

Fujinami, Kaoru ;

Michaelides, Michel .

BRITISH JOURNAL OF OPHTHALMOLOGY, 2017, 101 (01) :25-30

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