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 tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Standard
Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific heterozygous mutation in CHMP2B. / Zhang, Yu; Schmid, Benjamin; Nielsen, Troels Tolstrup; Nielsen, Jørgen Erik; Clausen, Christian; Hyttel, Poul; Holst, Bjørn; Freude, Kristine.
I: Stem Cell Research, Bind 17, Nr. 1, 07.2016, s. 148-150.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Harvard
APA
Vancouver
Author
Bibtex
}
RIS
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
VL - 17
SP - 148
EP - 150
JO - Stem Cell Research
JF - Stem Cell Research
SN - 1873-5061
IS - 1
ER -
ID: 163788132