Format

Send to

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

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

Author information

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.

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.

PMID:
30904819
DOI:
10.1016/j.scr.2019.101420
Free full text

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center