Journal Article

DZNE-2020-05338

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Establishment of SPAST mutant induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia (HSP) patient.

Hauser, S. (First author)DZNE* ; Erzler, M.DZNE* ; Theurer, Y.DZNE* ; Schuster, S. ; Schüle, R.DZNE* ; Schöls, L.DZNE*

2016
Elsevier Amsterdam [u.a.]

This record in other databases:    

Please use a persistent id in citations: doi:10.1016/j.scr.2016.09.022

Abstract: Human skin fibroblasts were isolated from a 40-year-old hereditary spastic paraplegia patient carrying an intronic splice site mutation (c.1687+2T>A) in SPAST, leading to hereditary spastic paraplegia type 4 (SPG4). Fibroblasts were reprogrammed using episomal plasmids carrying hOCT4, hSOX2, hKLF4, hL-MYC and hLIN28. The generated transgene-free line iPS-SPG4-splice 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-SPG4-splice line might be a useful platform to study the pathomechanism of SPG4.

Keyword(s): Adult (MeSH) ; Cell Differentiation (MeSH) ; Cell Line (MeSH) ; Cellular Reprogramming (MeSH) ; Embryoid Bodies: cytology (MeSH) ; Embryoid Bodies: metabolism (MeSH) ; Fibroblasts: cytology (MeSH) ; Heterozygote (MeSH) ; Humans (MeSH) ; Induced Pluripotent Stem Cells: cytology (MeSH) ; Induced Pluripotent Stem Cells: metabolism (MeSH) ; Microscopy, Fluorescence (MeSH) ; Polymorphism, Single Nucleotide (MeSH) ; RNA Splice Sites: genetics (MeSH) ; Sequence Analysis, DNA (MeSH) ; Skin: cytology (MeSH) ; Spastic Paraplegia, Hereditary: genetics (MeSH) ; Spastic Paraplegia, Hereditary: pathology (MeSH) ; Spastin: genetics (MeSH) ; Transcription Factors: genetics (MeSH) ; Transcription Factors: metabolism (MeSH) ; RNA Splice Sites ; Transcription Factors ; Spastin ; SPAST protein, human

---

Contributing Institute(s):

1. Clinical Neurogenetics (AG Schöls)
2. Parkinson Genetics (AG Gasser)
3. Functional Neurogeriatrics (AG Maetzler)

Research Program(s):

1. 345 - Population Studies and Genetics (POF3-345) (POF3-345)
2. 344 - Clinical and Health Care Research (POF3-344) (POF3-344)

Appears in the scientific report 2016

---

Database coverage:
; ; ; ; BIOSIS Previews ; Clarivate Analytics Master Journal List ; DOAJ Seal ; IF < 5 ; JCR ; NCBI Molecular Biology Database ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

---