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.
journal_name
Stem Cell Resjournal_title
Stem cell researchauthors
Hauser S,Höflinger P,Theurer Y,Rattay TW,Schöls Ldoi
10.1016/j.scr.2016.09.011subject
Has Abstractpub_date
2016-09-01 00:00:00pages
437-440issue
2eissn
1873-5061issn
1876-7753pii
S1873-5061(16)30125-8journal_volume
17pub_type
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