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

Zhang, D., McLenachan, S., Chen, S.-C., Zaw, K.ORCID: 0000-0002-4121-1985, Alziyadat, Y., Zhang, X., Lamey, T.M., Thompson, J.A., McLaren, T.L., Mellough, C., De Roach, J.N. and Chen, F.K. (2021) Generation of two induced pluripotent stem cell lines from a patient with recessive inherited retinal disease caused by compound heterozygous mutations in SNRNP200. Stem Cell Research, 51 . Article 102154.

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Abstract

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.

Item Type: Journal Article
Publisher: Elsevier B.V.
Copyright: © 2020 The Author(s)
URI: http://researchrepository.murdoch.edu.au/id/eprint/62960
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