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000268793 037__ $$aDZNE-2024-00336
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000268793 1001_ $$0P:(DE-2719)9002166$$aKorneck, Milena$$b0$$eFirst author
000268793 245__ $$aGeneration of homozygous and heterozygous REEP1 knockout induced pluripotent stem cell lines by CRISPR/Cas9 gene editing
000268793 260__ $$aAmsterdam [u.a.]$$bElsevier$$c2024
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000268793 520__ $$aREEP1 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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000268793 650_2 $$2MeSH$$aInduced Pluripotent Stem Cells: metabolism
000268793 650_2 $$2MeSH$$aCRISPR-Cas Systems
000268793 650_2 $$2MeSH$$aGene Editing
000268793 650_2 $$2MeSH$$aHumans
000268793 650_2 $$2MeSH$$aHomozygote
000268793 650_2 $$2MeSH$$aHeterozygote
000268793 650_2 $$2MeSH$$aCell Line
000268793 650_2 $$2MeSH$$aGene Knockout Techniques
000268793 7001_ $$0P:(DE-HGF)0$$aLeonhardt, A.$$b1
000268793 7001_ $$0P:(DE-2719)2810795$$aSchöls, L.$$b2$$udzne
000268793 7001_ $$0P:(DE-2719)2810998$$aHauser, S.$$b3$$eLast author$$udzne
000268793 773__ $$0PERI:(DE-600)2393143-7$$a10.1016/j.scr.2024.103378$$gVol. 77, p. 103378 -$$p103378$$tStem cell research$$v77$$x1873-5061$$y2024
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