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

Johann N Claassen; Dan Zhang; Shang-Chih Chen; Sang Yoon Moon; Tina Lamey; Jennifer A Thompson; Terri McLaren; John N De Roach; Samuel McLenachan; Fred K Chen

doi:10.1016/j.scr.2018.11.013

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

Stem Cell Res. 2019 Jan:34:101352. doi: 10.1016/j.scr.2018.11.013. Epub 2018 Nov 30.

Authors

Affiliations

¹ Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia; Lions Eye Institute, Nedlands, Western Australia, Australia.
² Lions Eye Institute, Nedlands, Western Australia, Australia.
³ Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
⁴ Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
⁵ Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia; Lions Eye Institute, Nedlands, Western Australia, Australia. Electronic address: smclenachan@lei.org.au.
⁶ Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia; Lions Eye Institute, Nedlands, Western Australia, Australia; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia; Department of Ophthalmology, Royal Perth Hospital, Perth, Western Australia, Australia.

PMID: 30634128
DOI: 10.1016/j.scr.2018.11.013

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

ATP-Binding Cassette Transporters / genetics*
Adolescent
Base Sequence
Cell Culture Techniques / methods*
Cell Line
Child
Female
Genes, Recessive*
Humans
Induced Pluripotent Stem Cells / pathology*
Kruppel-Like Factor 4
Macular Degeneration / congenital*
Macular Degeneration / genetics
Stargardt Disease

Substances

ABCA4 protein, human
ATP-Binding Cassette Transporters
KLF4 protein, human
Kruppel-Like Factor 4