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

Publikation: Bidrag til tidsskriftTidsskriftartikelfagfællebedømt

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.

OriginalsprogEngelsk
TidsskriftStem Cell Research
Vol/bind17
Udgave nummer1
Sider (fra-til)148-150
Antal sider3
ISSN1873-5061
DOI
StatusUdgivet - jul. 2016

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