Generation of two induced pluripotent stem cell lines from a patient with compound heterozygous mutations in the USH2A gene

Samuel McLenachan; Elaine Y M Wong; Xiao Zhang; Fiona Leith; Sang Yoon Moon; Dan Zhang; Shang-Chih Chen; Jennifer A Thompson; Terri McLaren; Tina Lamey; John N De Roach; Marcus D Atlas; Rodney J Dilley; Fred K Chen

doi:10.1016/j.scr.2019.101420

Generation of two induced pluripotent stem cell lines from a patient with compound heterozygous mutations in the USH2A gene

Stem Cell Res. 2019 Apr:36:101420. doi: 10.1016/j.scr.2019.101420. Epub 2019 Mar 16.

Authors

Samuel McLenachan¹, Elaine Y M Wong², Xiao Zhang¹, Fiona Leith³, Sang Yoon Moon⁴, Dan Zhang⁵, Shang-Chih Chen⁵, Jennifer A Thompson⁶, Terri McLaren⁷, Tina Lamey⁷, John N De Roach⁷, Marcus D Atlas⁸, Rodney J Dilley⁹, Fred K Chen¹⁰

Affiliations

¹ Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia; Lions Eye Institute Australia, Nedlands, Western Australia, Australia.
² Ear Science Institute Australia, Nedlands, Western Australia, Australia; School of Pharmacy and Biomedical Sciences, Faculty of Health Sciences, Curtin University, Bentley, Western Australia, Australia; Centre for Neurological & Neuromuscular Diseases, The University of Western Australia, Crawley, Western Australia, Australia.
³ Ear Science Institute Australia, Nedlands, Western Australia, Australia.
⁴ Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia.
⁵ Lions Eye Institute Australia, Nedlands, Western Australia, Australia.
⁶ Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
⁷ Centre for Ophthalmology and Visual Sciences, The University of Western Australia, 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.
⁸ Ear Science Institute Australia, Nedlands, Western Australia, Australia; Ear Sciences Centre, The University of Western Australia, Nedlands, Western Australia, Australia.
⁹ Ear Science Institute Australia, Nedlands, Western Australia, Australia; Centre for Cell Therapy and Regenerative Medicine, The University of Western Australia, Australia; Ear Sciences Centre, The University of Western Australia, Nedlands, Western Australia, Australia.
¹⁰ Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia; Lions Eye Institute Australia, Nedlands, Western Australia, Australia; Department of Ophthalmology, Royal Perth Hospital, Perth, Western Australia, Australia. Electronic address: fredchen@lei.org.au.

PMID: 30904819
DOI: 10.1016/j.scr.2019.101420

Abstract

The human iPSC lines LEIi010-A and LEIi010-B were generated from the dermal fibroblasts of a patient with Usher syndrome using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for p53. These iPSC lines carry compound heterozygous mutations (c.949C > A and c.1256G > T) in USH2A. LEIi010-A and LEIi010-B expressed pluripotent stem cell markers, had a normal karyotype and could be differentiated into endoderm, mesoderm and ectodermal lineages.

Publication types

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

MeSH terms

Cell Differentiation
Cell Line*
Cellular Reprogramming Techniques
Extracellular Matrix Proteins / genetics*
Fibroblasts
Heterozygote
Humans
Induced Pluripotent Stem Cells*
Karyotype
Kruppel-Like Factor 4
Skin
Usher Syndromes / genetics*

Substances

Extracellular Matrix Proteins
KLF4 protein, human
Kruppel-Like Factor 4
USH2A protein, human