Generation of an induced pluripotent stem cell line from a patient with non-syndromic CLN3-associated retinal degeneration and a coisogenic control line

Xiao Zhang; Dan Zhang; Shang-Chih Chen; Tina Lamey; Jennifer A Thompson; Terri McLaren; John N De Roach; Fred K Chen; Samuel McLenachan

doi:10.1016/j.scr.2018.04.014

Generation of an induced pluripotent stem cell line from a patient with non-syndromic CLN3-associated retinal degeneration and a coisogenic control line

Stem Cell Res. 2018 May:29:245-249. doi: 10.1016/j.scr.2018.04.014. Epub 2018 May 1.

Authors

Xiao Zhang¹, Dan Zhang¹, Shang-Chih Chen¹, Tina Lamey², Jennifer A Thompson³, Terri McLaren³, John N De Roach², Fred K Chen⁴, Samuel McLenachan¹

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 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.
³ Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
⁴ 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; Royal Perth Hospital, Perth, Western Australia, Australia. Electronic address: [email protected].

PMID: 29753273
DOI: 10.1016/j.scr.2018.04.014

Abstract

We report the generation of the human iPSC line LEIi004-A from a patient with late-onset non-syndromic retinitis pigmentosa caused by compound heterozygous mutations in the CLN3 gene. Reprogramming of primary dermal fibroblasts was performed using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, shRNA for p53 and mir302/367 microRNA. To create a coisogenic control line, one CLN3 variant was corrected in the patient-iPSC using CRISPR/Cas9 gene editing to generate the iPSC line LEIi004-A-1.

Publication types

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

MeSH terms

CRISPR-Cas Systems
Cell Line
Dermis* / metabolism
Dermis* / pathology
Female
Fibroblasts* / metabolism
Fibroblasts* / pathology
Gene Editing
Humans
Induced Pluripotent Stem Cells* / metabolism
Induced Pluripotent Stem Cells* / pathology
Kruppel-Like Factor 4
Membrane Glycoproteins / genetics*
MicroRNAs / biosynthesis
MicroRNAs / genetics
Middle Aged
Molecular Chaperones / genetics*
Retinal Degeneration* / genetics
Retinal Degeneration* / metabolism
Retinal Degeneration* / pathology
Transcription Factors / biosynthesis
Transcription Factors / genetics

Substances

CLN3 protein, human
KLF4 protein, human
Kruppel-Like Factor 4
MIRN302A microRNA, human
MIRN367 microRNA, human
Membrane Glycoproteins
MicroRNAs
Molecular Chaperones
Transcription Factors