Journal Article

DZNE-2020-05238

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome).

Hauser, S. (First author)DZNE* ; Schuster, S.DZNE* ; Theurer, Y.DZNE* ; Synofzik, M.DZNE* ; Schöls, L. (Last author)DZNE*

2016
Elsevier Amsterdam [u.a.]

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Please use a persistent id in citations: doi:10.1016/j.scr.2016.09.012

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.

Keyword(s): Ataxia: genetics (MeSH) ; Ataxia: metabolism (MeSH) ; Ataxia: pathology (MeSH) ; Base Sequence (MeSH) ; Cell Differentiation (MeSH) ; Cell Line (MeSH) ; Cellular Reprogramming (MeSH) ; DNA Mutational Analysis (MeSH) ; Female (MeSH) ; Fibroblasts: cytology (MeSH) ; Fibroblasts: metabolism (MeSH) ; GTP Phosphohydrolases: genetics (MeSH) ; Genotype (MeSH) ; Hearing Loss: genetics (MeSH) ; Hearing Loss: metabolism (MeSH) ; Hearing Loss: pathology (MeSH) ; Heterozygote (MeSH) ; Humans (MeSH) ; Immunohistochemistry (MeSH) ; Induced Pluripotent Stem Cells: cytology (MeSH) ; Induced Pluripotent Stem Cells: metabolism (MeSH) ; Intellectual Disability: genetics (MeSH) ; Intellectual Disability: metabolism (MeSH) ; Intellectual Disability: pathology (MeSH) ; Middle Aged (MeSH) ; Optic Atrophy: congenital (MeSH) ; Optic Atrophy: genetics (MeSH) ; Optic Atrophy: metabolism (MeSH) ; Optic Atrophy: pathology (MeSH) ; Polymorphism, Single Nucleotide (MeSH) ; Spasm: genetics (MeSH) ; Spasm: metabolism (MeSH) ; Spasm: pathology (MeSH) ; Transcription Factors: genetics (MeSH) ; Transcription Factors: metabolism (MeSH) ; Transcription Factors ; GTP Phosphohydrolases ; OPA1 protein, human

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Contributing Institute(s):

1. Clinical Neurogenetics (AG Schöls)
2. Parkinson Genetics (AG Gasser)

Research Program(s):

1. 345 - Population Studies and Genetics (POF3-345) (POF3-345)

Appears in the scientific report 2016

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Database coverage:
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