Establishment of an induced pluripotent stem cell line from a retinitis pigmentosa patient with compound heterozygous CRB1 mutation.

Authors :: Zhang X
Zhang D
Chen SC
Lamey T
Thompson JA
McLaren T
De Roach JN
Chen FK
McLenachan S
Source :: Stem cell research [Stem Cell Res] 2018 Aug; Vol. 31, pp. 147-151. Date of Electronic Publication: 2018 Aug 02.
Publication Year :: 2018
Abstract: The human iPSC line LEIi006-A was generated from dermal fibroblasts from a patient with retinitis pigmentosa using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for p53. The iPSC cells carry compound heterozygous mutations (c.1892A > G and c.2548G > A) in the CRB1 gene. LEIi006-A expressed pluripotent stem cell markers, had a normal karyotype and could be differentiated into endoderm, mesoderm and ectodermal lineages, as well as retinal organoids.<br /> (Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.)

Subjects :: Cell Differentiation
Cell Line
Female
Humans
Kruppel-Like Factor 4
Middle Aged
Mutation
Eye Proteins metabolism
Induced Pluripotent Stem Cells metabolism
Membrane Proteins metabolism
Nerve Tissue Proteins metabolism
Retinitis Pigmentosa genetics

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