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

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

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...

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Main Authors: Stefan Hauser, Stefanie Schuster, Yvonne Theurer, Matthis Synofzik, Ludger Schöls
Format: Article
Language:English
Published: Elsevier 2016-09-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506116301271
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spelling doaj-957fbd1d534a4c6998f4674f9994c2612020-11-24T22:50:47ZengElsevierStem Cell Research1873-50611876-77532016-09-0117242642910.1016/j.scr.2016.09.012Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome)Stefan Hauser0Stefanie Schuster1Yvonne Theurer2Matthis Synofzik3Ludger Schöls4German Center for Neurodegenerative Diseases (DZNE), Tuebingen, GermanyDepartment of Neurology and Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, GermanyGerman Center for Neurodegenerative Diseases (DZNE), Tuebingen, GermanyGerman Center for Neurodegenerative Diseases (DZNE), Tuebingen, GermanyGerman Center for Neurodegenerative Diseases (DZNE), Tuebingen, GermanyHuman 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.http://www.sciencedirect.com/science/article/pii/S1873506116301271
collection DOAJ
language English
format Article
sources DOAJ
author Stefan Hauser
Stefanie Schuster
Yvonne Theurer
Matthis Synofzik
Ludger Schöls
spellingShingle Stefan Hauser
Stefanie Schuster
Yvonne Theurer
Matthis Synofzik
Ludger Schöls
Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome)
Stem Cell Research
author_facet Stefan Hauser
Stefanie Schuster
Yvonne Theurer
Matthis Synofzik
Ludger Schöls
author_sort Stefan Hauser
title Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome)
title_short Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome)
title_full Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome)
title_fullStr Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome)
title_full_unstemmed Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome)
title_sort generation of optic atrophy 1 patient-derived induced pluripotent stem cells (ips-opa1-behr) for disease modeling of complex optic atrophy syndromes (behr syndrome)
publisher Elsevier
series Stem Cell Research
issn 1873-5061
1876-7753
publishDate 2016-09-01
description 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.
url http://www.sciencedirect.com/science/article/pii/S1873506116301271
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