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Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome)
2016
Stem Cell Research
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Human skin fibroblasts were isolated from a 48-year-old patient carrying compound heterozygous mutations (c.610+364GN A and c.1311AN 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,
doi:10.1016/j.scr.2016.09.012
pmid:27879217
fatcat:ly7yglerw5byhfcv672ao4q444