Human pluripotent stem cells for the modelling of retinal pigment epithelium homeostasis and disease: A review

被引：4

作者：

Hall, Jenna C. ^{[1
]}

Paull, Daniel ^{[2
]}

Pebay, Alice ^{[1
,3
]}

Lidgerwood, Grace E. ^{[1
]}

机构：

[1] Univ Melbourne, Dept Anat & Physiol, Parkville, Vic 3010, Australia

[2] New York Stem Cell Fdn Res Inst, New York, NY USA

[3] Univ Melbourne, Royal Melbourne Hosp, Dept Surg, Parkville, Vic, Australia

来源：

CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY | 2022年 / 50卷 / 06期

基金：

英国医学研究理事会; 澳大利亚国家健康与医学研究理事会; 澳大利亚研究理事会;

关键词：

human pluripotent stem cells; retinal disease; disease modelling; retinal pigment epithelium; COMPLEMENT FACTOR-H; GENOME-WIDE ASSOCIATION; MACULAR DEGENERATION; DIRECTED DIFFERENTIATION; HUMAN FIBROBLASTS; NEURAL RETINA; BEST-DISEASE; OPTIC-NERVE; GENE; ABCA4;

D O I：

10.1111/ceo.14128

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Human pluripotent stem cells (hPSCs), which include induced pluripotent stem cells and embryonic stem cells, are powerful tools for studying human development, physiology and disease, including those affecting the retina. Cells from selected individuals, or specific genetic backgrounds, can be differentiated into distinct cell types allowing the modelling of diseases in a dish for therapeutic development. hPSC-derived retinal cultures have already been used to successfully model retinal pigment epithelium (RPE) degeneration for various retinal diseases including monogenic conditions and complex disease such as age-related macular degeneration. Here, we will review the current knowledge gained in understanding the molecular events involved in retinal disease using hPSC-derived retinal models, in particular RPE models. We will provide examples of various conditions to illustrate the scope of applications associated with the use of hPSC-derived RPE models.

引用

页码：667 / 677

页数：11

共 102 条

[1] Recapitulating developmental mechanisms for retinal regeneration [J].

Ahmad, Iqbal ;

Teotia, Pooja ;

Erickson, Helen ;

Xia, Xiaohuan .

PROGRESS IN RETINAL AND EYE RESEARCH, 2020, 76

[2] Assessment of established techniques to determine developmental and malignant potential of human pluripotent stem cells [J].

Allison, Thomas F. ;

Andrews, Peter W. ;

Avior, Yishai ;

Barbaric, Ivana ;

Benvenisty, Nissim ;

Bock, Christoph ;

Brehm, Jennifer ;

Bruestle, Oliver ;

Damjanov, Ivan ;

Elefanty, Andrew ;

Felkner, Daniel ;

Gokhale, Paul J. ;

Halbritter, Florian ;

Healy, Lyn E. ;

Hu, Tim X. ;

Knowles, Barbara B. ;

Loring, Jeanne F. ;

Ludwig, Tenneille E. ;

Mayberry, Robyn ;

Micallef, Suzanne ;

Mohamed, Jameelah S. ;

Mueller, Franz-Josef ;

Mummery, Christine L. ;

Nakatsuji, Norio ;

Ng, Elizabeth S. ;

Oh, Steve K. W. ;

O'Shea, Orla ;

Pera, Martin F. ;

Reubinoff, Benjamin ;

Robson, Paul ;

Rossant, Janet ;

Schuldt, Bernhard M. ;

Solter, Davor ;

Sourris, Koula ;

Stacey, Glyn ;

Stanley, Edouard G. ;

Suemori, Hirofumi ;

Takahashi, Kazutoshi ;

Yamanaka, Shinya .

NATURE COMMUNICATIONS, 2018, 9

[3] First CRISPR therapy dosed [J].

不详 .

NATURE BIOTECHNOLOGY, 2020, 38 (04) :382-382

[4] Gene editing prospects for treating inherited retinal diseases [J].

Benati, Daniela ;

Patrizi, Clarissa ;

Recchia, Alessandra .

JOURNAL OF MEDICAL GENETICS, 2020, 57 (07) :437-444

[5] Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease [J].

Braun, Terry A. ;

Mullins, Robert F. ;

Wagner, Alex H. ;

Andorf, Jeaneen L. ;

Johnston, Rebecca M. ;

Bakall, Benjamin B. ;

Deluca, Adam P. ;

Fishman, Gerald A. ;

Lam, Byron L. ;

Weleber, Richard G. ;

Cideciyan, Artur V. ;

Jacobson, Samuel G. ;

Sheffield, Val C. ;

Tucker, Budd A. ;

Stone, Edwin M. .

HUMAN MOLECULAR GENETICS, 2013, 22 (25) :5136-5145

[6] A comprehensive mutation analysis of RP2 and RPGR in a north American cohort of families with x-linked retinitis pigmentosa [J].

Breuer, DK ;

Yashar, BM ;

Filippova, E ;

Hiriyanna, S ;

Lyons, RH ;

Mears, AJ ;

Asaye, B ;

Acar, C ;

Vervoort, R ;

Wright, AF ;

Musarella, MA ;

Wheeler, P ;

MacDonald, I ;

Iannaccone, A ;

Birch, D ;

Hoffman, DR ;

Fishman, GA ;

Heckenlively, JR ;

Jacobson, SG ;

Sieving, PA ;

Swaroop, A .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (06) :1545-1554

[7] Rapid and Efficient Directed Differentiation of Human Pluripotent Stem Cells Into Retinal Pigmented Epithelium [J].

Buchholz, David E. ;

Pennington, Britney O. ;

Croze, Roxanne H. ;

Hinman, Cassidy R. ;

Coffey, Peter J. ;

Clegg, Dennis O. .

STEM CELLS TRANSLATIONAL MEDICINE, 2013, 2 (05) :384-393

[8] Unstimulated, Serum-free Cultures of Retinal Pigment Epithelium Excrete Large Mounds of Drusen-like Deposits [J].

Chen, Xiaoyu ;

Singh, Deepti ;

Adelman, Ron A. ;

Rizzolo, Lawrence J. .

CURRENT EYE RESEARCH, 2020, 45 (11) :1390-1394

[9] Sorsby fundus dystrophy - A review of pathology and disease mechanisms [J].

Christensen, David R. G. ;

Brown, Ffion E. ;

Cree, Angela J. ;

Ratnayaka, J. Arjuna ;

Lotery, Andrew J. .

EXPERIMENTAL EYE RESEARCH, 2017, 165 :35-46

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

Claassen, Johann N. ;

Zhang, Dan ;

Chen, Shang-Chih ;

Moon, Sang Yoon ;

Lamey, Tina ;

Thompson, Jennifer A. ;

McLaren, Terri ;

De Roach, John N. ;

McLenachan, Samuel ;

Chen, Fred K. .

STEM CELL RESEARCH, 2019, 34

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