Generation of two induced pluripotent stem cell lines from a patient with recessive inherited retinal disease caused by compound heterozygous mutations in SNRNP200

Dan Zhang; Samuel McLenachan; Shang-Chih Chen; Khine Zaw; Yaqin Alziyadat; Xiao Zhang; Tina M. Lamey; Jennifer A. Thompson; Terri L. McLaren; Carla Mellough; John N. De Roach; Fred K. Chen

Stem Cell Research (Mar 2021)

Generation of two induced pluripotent stem cell lines from a patient with recessive inherited retinal disease caused by compound heterozygous mutations in SNRNP200

Dan Zhang,
Samuel McLenachan,
Shang-Chih Chen,
Khine Zaw,
Yaqin Alziyadat,
Xiao Zhang,
Tina M. Lamey,
Jennifer A. Thompson,
Terri L. McLaren,
Carla Mellough,
John N. De Roach,
Fred K. Chen

Affiliations

Dan Zhang: Lions Eye Institute, Nedlands, Western Australia, Australia
Samuel McLenachan: Lions Eye Institute, Nedlands, Western Australia, Australia; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia
Shang-Chih Chen: Lions Eye Institute, Nedlands, Western Australia, Australia
Khine Zaw: Lions Eye Institute, Nedlands, Western Australia, Australia
Yaqin Alziyadat: Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia
Xiao Zhang: Lions Eye Institute, Nedlands, Western Australia, Australia
Tina M. Lamey: 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
Jennifer A. Thompson: Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia
Terri L. McLaren: 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
Carla Mellough: Lions Eye Institute, Nedlands, Western Australia, Australia; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia
John N. De Roach: 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
Fred K. Chen: Lions Eye Institute, Nedlands, Western Australia, Australia; 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; Department of Ophthalmology, Royal Perth Hospital, Perth, Western Australia, Australia; Corresponding author at: Lions Eye Institute, Nedlands, Western Australia, Australia.

Journal volume & issue: Vol. 51
p. 102154

Abstract

Read online

The human induced pluripotent stem cell (iPSC) lines LEIi015-A and LEIi015-B were derived from a patient with inherited retinal disease caused by compound heterozygous mutations in the SNRNP200 gene (c.[1792C>T];[3341T>C]). Dermal fibroblasts were transfected with episomal plasmids carrying transgenes encoding OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for P53. The clonal iPSC lines LEIi015-A and LEIi015-B expressed iPSC markers, were free from genomic alterations and demonstrated trilineage differentiation potential.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

About the journal