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

TY - JOUR

T1 - Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific heterozygous mutation in CHMP2B

AU - Zhang, Yu

AU - Schmid, Benjamin

AU - Nielsen, Troels Tolstrup

AU - Nielsen, Jørgen Erik

AU - Clausen, Christian

AU - Hyttel, Poul

AU - Holst, Bjørn

AU - Freude, Kristine

PY - 2016/7

Y1 - 2016/7

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84975464804&partnerID=8YFLogxK

U2 - 10.1016/j.scr.2016.06.004

DO - 10.1016/j.scr.2016.06.004

M3 - Journal article

C2 - 27558613

AN - SCOPUS:84975464804

SN - 1873-5061

VL - 17

SP - 148

EP - 150

JO - Stem Cell Research

JF - Stem Cell Research

IS - 1

ER -