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Generation of an induced pluripotent stem cell line from a patient with retinitis pigmentosa caused by RP1 mutation.
- Source :
-
Stem cell research [Stem Cell Res] 2019 May; Vol. 37, pp. 101452. Date of Electronic Publication: 2019 Apr 25. - Publication Year :
- 2019
-
Abstract
- We report the generation of the iPSC line LEIi005-B from a patient with retinitis pigmentosa caused by a dominant nonsense mutation in the RP1 gene (c.2098G>T p.E700X). Reprogramming of dermal fibroblasts was performed using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for p53 to establish the clonal iPSC line LEIi005-B. LEIi005-B expressed pluripotent stem cell markers, had a normal karyotype and differentiated into endoderm, mesoderm and ectoderm.<br /> (Copyright © 2019. Published by Elsevier B.V.)
- Subjects :
- Aged
Cells, Cultured
Female
Fibroblasts metabolism
Humans
Induced Pluripotent Stem Cells metabolism
Kruppel-Like Factor 4
Phenotype
Retinitis Pigmentosa pathology
Cell Differentiation
Cellular Reprogramming
Fibroblasts pathology
Induced Pluripotent Stem Cells pathology
Microtubule-Associated Proteins genetics
Mutation
Retinitis Pigmentosa genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1876-7753
- Volume :
- 37
- Database :
- MEDLINE
- Journal :
- Stem cell research
- Publication Type :
- Academic Journal
- Accession number :
- 31059986
- Full Text :
- https://doi.org/10.1016/j.scr.2019.101452