Generation of two induced pluripotent stem cell lines from a retinitis pigmentosa patient with compound heterozygous mutations in CRB1

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 an...

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Veröffentlicht in:Stem cell research 2021-07, Vol.54, p.102403-102403, Article 102403
Hauptverfasser: 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
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Sprache:eng
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Zusammenfassung: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.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2021.102403