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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Article number102154
JournalStem Cell Research
Volume51
DOIs
Publication statusPublished - Mar 2021

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