Article
Generation of two induced pluripotent stem cell lines from a retinitis pigmentosa patient with compound heterozygous mutations in CRB1.
Stem cell research - 1 Jul 2021
Moon Sang Yoon, Zhang Dan, Chen Shang-Chih, Lamey Tina M, Thompson Jennifer A, McLaren Terri L, De Roach John N, Chen Fred K, McLenachan Samuel
Abstract excerpt
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...
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