Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6481798 | Stem Cell Research | 2016 | 4 Pages |
Human skin fibroblasts were isolated from a 48-year-old patient carrying compound heterozygous mutations (c.610Â +Â 364GÂ >Â A and c.1311AÂ >Â 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.