generation of induced pluripotent stem cells (ipscs) from a hereditary spastic paraplegia patient carrying a homozygous y275x mutation in cyp7b1 (spg5)
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ID: 246483
2016
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Abstract
Skin fibroblasts were obtained from a 47-year-old hereditary spastic paraplegia patient carrying a homozygous mutation Y275X in CYP7B1 (Cytochrome P450, Family 7, Subfamily B, Polypeptide 1), responsible for causing hereditary spastic paraplegia type 5 (SPG5). Induced pluripotent stem cells (iPSCs) were generated by transfection with episomal plasmids carrying hOCT4, hSOX2, hKLF4, hL-MYC and hLIN28. The generated line iPS-SPG5-Y275X was transgene-free, retained the specific mutation with no additional genomic aberrations, expressed pluripotency markers and was able to differentiate into cells of all germ layers in vitro. The generated iPS-SPG5-Y275X line may be a useful resource for disease modelling of SPG5.
| Reference Key |
hauser2016stemgeneration
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| Authors | ;Stefan Hauser;Philip Höflinger;Yvonne Theurer;Tim W Rattay;Ludger Schöls |
| Journal | journal of energy chemistry |
| Year | 2016 |
| DOI |
10.1016/j.scr.2016.09.011
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