Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome)

Autor: Hauser, Stefan, Schuster, Stefanie, Theurer, Yvonne, Synofzik, Matthis, Schöls, Ludger
Jazyk: angličtina
Rok vydání: 2016
Předmět:
genetics [Spasm]
Spasm
genetics [Hearing Loss]
pathology [Optic Atrophy]
DNA Mutational Analysis
pathology [Hearing Loss]
OPA1 protein
human
pathology [Ataxia]
GTP Phosphohydrolases
genetics [Optic Atrophy]
metabolism [Hearing Loss]
cytology [Fibroblasts]
metabolism [Transcription Factors]
lcsh:QH301-705.5
Medicine(all)
Cell Differentiation
cytology [Induced Pluripotent Stem Cells]
genetics [Ataxia]
Middle Aged
genetics [Transcription Factors]
Cellular Reprogramming
Immunohistochemistry
metabolism [Intellectual Disability]
metabolism [Induced Pluripotent Stem Cells]
Female
metabolism [Ataxia]
metabolism [Fibroblasts]
genetics [GTP Phosphohydrolases]
Heterozygote
Genotype
Induced Pluripotent Stem Cells
metabolism [Spasm]
Polymorphism
Single Nucleotide
pathology [Intellectual Disability]
Cell Line
Intellectual Disability
ddc:570
Humans
Hearing Loss
pathology [Spasm]
Base Sequence
Cell Biology
Fibroblasts
eye diseases
Optic Atrophy
lcsh:Biology (General)
metabolism [Optic Atrophy]
Ataxia
genetics [Intellectual Disability]
congenital [Optic Atrophy]
Developmental Biology
Transcription Factors
Zdroj: Stem cell research 17(2), 426-429 (2016). doi:10.1016/j.scr.2016.09.012
Stem Cell Research, Vol 17, Iss 2, Pp 426-429 (2016)
DOI: 10.1016/j.scr.2016.09.012
Popis: 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.
Databáze: OpenAIRE
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