ABSTRACT
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.
Subject(s)
CRISPR-Cas Systems , Gene Editing , Heterozygote , Homozygote , Induced Pluripotent Stem Cells , Induced Pluripotent Stem Cells/metabolism , Humans , Cell Line , Gene Knockout TechniquesABSTRACT
Spastin is a an ATPase that severs microtubules therby regulating amount and mobility of these structures. Mutations in the SPAST gene (SPG4) are the most common form of Hereditary Spastic Paraplegia (HSP). Here, we report the generation of a homozygous and a heterozygous SPAST knockout induced pluripotent stem cell (iPSC) line from a healthy control iPSC line using CRISPR/Cas9 technology.
