Abstract
Human skin fibroblasts were isolated from a 48-year-old patient carrying compound heterozygous mutations (c.610+364G>A and c.1311A>G) in OPA1, responsible for early onset optic atrophy complicated by ataxia and pyramidal signs (Behr syndrome; OMIM #210000). Fibroblasts were reprogrammed using episomal plasmids carrying hOCT4, hSOX2, hKLF4, hL-MYC and hLIN28. The generated transgene-free line iPS-OPA1-BEHR showed no additional genomic aberrations, maintained the disease-relevant mutations, expressed important pluripotency markers and was capable to differentiate into cells of all three germ layers in vitro. The generated iPS-OPA1-BEHR line might be a useful platform to study the pathomechanism of early onset complicated optic atrophy syndromes.
Copyright © 2016 Helmholtz Zentrum München. Published by Elsevier B.V. All rights reserved.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Ataxia / genetics
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Ataxia / metabolism
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Ataxia / pathology*
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Base Sequence
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Cell Differentiation
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Cell Line
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Cellular Reprogramming*
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DNA Mutational Analysis
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Female
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Fibroblasts / cytology
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Fibroblasts / metabolism
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GTP Phosphohydrolases / genetics*
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Genotype
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Hearing Loss / genetics
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Hearing Loss / metabolism
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Hearing Loss / pathology*
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Heterozygote
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Humans
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Immunohistochemistry
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Induced Pluripotent Stem Cells / cytology
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Induced Pluripotent Stem Cells / metabolism*
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Intellectual Disability / genetics
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Intellectual Disability / metabolism
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Intellectual Disability / pathology*
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Middle Aged
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Optic Atrophy / congenital*
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Optic Atrophy / genetics
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Optic Atrophy / metabolism
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Optic Atrophy / pathology
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Polymorphism, Single Nucleotide
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Spasm / genetics
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Spasm / metabolism
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Spasm / pathology*
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Transcription Factors / genetics
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Transcription Factors / metabolism
Substances
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Transcription Factors
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GTP Phosphohydrolases
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OPA1 protein, human