Generation of two induced pluripotent stem cell lines from a retinitis pigmentosa patient with compound heterozygous mutations in CRB1

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

doi:10.1016/j.scr.2021.102403

Generation of two induced pluripotent stem cell lines from a retinitis pigmentosa patient with compound heterozygous mutations in CRB1

Stem Cell Res. 2021 Jul:54:102403. doi: 10.1016/j.scr.2021.102403. Epub 2021 May 20.

Authors

Sang Yoon Moon¹, Dan Zhang², Shang-Chih Chen², Tina M Lamey³, Jennifer A Thompson⁴, Terri L McLaren³, John N De Roach³, Fred K Chen⁵, 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 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; 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: 34034222
DOI: 10.1016/j.scr.2021.102403

Abstract

Two human iPSC lines were generated from dermal fibroblasts derived from a patient with retinitis pigmentosa caused by CRB1 mutation using episomal plasmids containing OCT4, SOX2, LIN28, KLF4, L-MYC and mp53DD. These clonal iPSC lines carry compound heterozygous mutations in CRB1 (c.2555 T > C and c.3014A > T). Both lines expressed pluripotency markers, displayed a normal karyotype and demonstrated the ability to differentiate into the three primary germ layers, as well as retinal organoids.

Publication types

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

MeSH terms

Cell Differentiation
Cell Line
Eye Proteins / genetics
Fibroblasts
Humans
Induced Pluripotent Stem Cells*
Kruppel-Like Factor 4
Membrane Proteins
Mutation
Nerve Tissue Proteins
Retinitis Pigmentosa* / genetics

Substances

CRB1 protein, human
Eye Proteins
KLF4 protein, human
Kruppel-Like Factor 4
Membrane Proteins
Nerve Tissue Proteins