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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Article number102403
JournalStem Cell Research
Volume54
DOIs
Publication statusPublished - Jul 2021

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