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Stem Cell Res. 2016 Sep;17(2):437-440. doi: 10.1016/j.scr.2016.09.011. Epub 2016 Sep 18.

Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous Y275X mutation in CYP7B1 (SPG5).

Author information

1
German Center for Neurodegenerative Diseases (DZNE), Tuebingen, Germany. Electronic address: stefan.hauser@dzne.de.
2
Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany; Graduate School of Cellular and Molecular Neuroscience, University of Tuebingen, Tuebingen, Germany.
3
German Center for Neurodegenerative Diseases (DZNE), Tuebingen, Germany.
4
Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.
5
German Center for Neurodegenerative Diseases (DZNE), Tuebingen, Germany; Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.

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.

PMID:
27879220
DOI:
10.1016/j.scr.2016.09.011
[Indexed for MEDLINE]
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