Generation of two induced pluripotent stem cell lines from a patient with Stargardt Macular Dystrophy caused by the c.768G>T and c.6079C>T mutations in ABCA4

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

doi:10.1016/j.scr.2020.101947

Generation of two induced pluripotent stem cell lines from a patient with Stargardt Macular Dystrophy caused by the c.768G>T and c.6079C>T mutations in ABCA4

Stem Cell Res. 2020 Oct:48:101947. doi: 10.1016/j.scr.2020.101947. Epub 2020 Aug 5.

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.
⁴ 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 Gardiner Hospital, Perth, Western Australia, Australia.
⁵ Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gardiner Hospital, Perth, Western Australia, Australia.
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 Gardiner Hospital, Perth, Western Australia, Australia; Department of Ophthalmology, Royal Perth Hospital, Perth, Western Australia, Australia.

PMID: 32810830
DOI: 10.1016/j.scr.2020.101947

Abstract

Autosomal recessive Stargardt disease is the most common cause of inherited retinal disease. In this report, we describe the generation and characterization of two human induced pluripotent stem cell (iPSC) lines from a patient with compound heterozygous mutations in the ABCA4 gene (c.[768G>T];[6079C>T]). Patient dermal fibroblasts were reprogrammed using episomal plasmids encoding OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for P53. The clonal iPSC lines LEIi012-A and LEIi012-B were established. Both lines had a normal karyotype, displayed iPSC morphology, expressed pluripotency genes at similar levels to control iPSC and displayed trilineage differentiation potential during embryoid body differentiation.

Publication types

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

MeSH terms

ATP-Binding Cassette Transporters* / genetics
Cell Differentiation
Cell Line
Humans
Induced Pluripotent Stem Cells*
Kruppel-Like Factor 4
Mutation
Stargardt Disease* / genetics

Substances

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