Home > Publications Database > Generation of homozygous and heterozygous REEP1 knockout induced pluripotent stem cell lines by CRISPR/Cas9 gene editing > print

001     268793
005     20240808164546.0
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024 7 _ |a 10.1016/j.scr.2024.103378
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024 7 _ |a 1873-5061
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037 _ _ |a DZNE-2024-00336
082 _ _ |a 570
100 1 _ |a Korneck, Milena
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245 _ _ |a Generation of homozygous and heterozygous REEP1 knockout induced pluripotent stem cell lines by CRISPR/Cas9 gene editing
260 _ _ |a Amsterdam [u.a.]
|c 2024
|b Elsevier
336 7 _ |a article
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520 _ _ |a REEP1 is a transmembrane protein in the endoplasmic reticulum (ER) membrane that is involved in shaping and remodeling of the ER. Mutations in REEP1 cause SPG31, an autosomal dominant form of hereditary spastic paraplegia (HSP). Here we show the generation of a homozygous and a heterozygous REEP1 knockout induced pluripotent stem cell line suitable for in vitro disease modelling using the CRISPR/Cas9 editing system.
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650 _ 2 |a Induced Pluripotent Stem Cells: metabolism
|2 MeSH
650 _ 2 |a CRISPR-Cas Systems
|2 MeSH
650 _ 2 |a Gene Editing
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Homozygote
|2 MeSH
650 _ 2 |a Heterozygote
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650 _ 2 |a Cell Line
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650 _ 2 |a Gene Knockout Techniques
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700 1 _ |a Leonhardt, A.
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700 1 _ |a Schöls, L.
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700 1 _ |a Hauser, S.
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773 _ _ |a 10.1016/j.scr.2024.103378
|g Vol. 77, p. 103378 -
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|t Stem cell research
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|y 2024
|x 1873-5061
856 4 _ |u https://pub.dzne.de/record/268793/files/DZNE-2024-00336%20SUP.pdf
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910 1 _ |a Deutsches Zentrum für Neurodegenerative Erkrankungen
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