Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific heterozygous mutation in CHMP2B

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Yu Zhang, Benjamin Schmid, Troels Tolstrup Nielsen, Jørgen Erik Nielsen, Christian Clausen, Poul Hyttel, Bjørn Holst, Kristine Freude

Frontotemporal dementia (FTD) is an early onset neurodegenerative disease. Mutations in several genes cause familial FTD and one of them is charged multivesicular body protein 2B (CHMP2B) on chromosome 3 (FTD3), a component of the endosomal sorting complex required for transport III (ESCRT-III). We have generated an induced pluripotent stem cell (iPSC) line of a healthy individual and inserted the CHMP2B IVS5AS G-C gene mutation into one of the alleles, resulting in aberrant splicing. This human iPSC line provides an ideal model to study CHMP2B-dependent phenotypes of FTD3.

Original languageEnglish
JournalStem Cell Research
Issue number1
Pages (from-to)148-150
Number of pages3
Publication statusPublished - Jul 2016

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