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

Zhang, Y, Schmid, B, Nielsen, TT, Nielsen, JE, Clausen, C, Hyttel, P, Holst, B & Freude, K 2016, 'Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific heterozygous mutation in CHMP2B', Stem Cell Research, bind 17, nr. 1, s. 148-150. https://doi.org/10.1016/j.scr.2016.06.004

APA

Zhang, Y., Schmid, B., Nielsen, T. T., Nielsen, J. E., Clausen, C., Hyttel, P., Holst, B., & Freude, K. (2016). Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific heterozygous mutation in CHMP2B. Stem Cell Research, 17(1), 148-150. https://doi.org/10.1016/j.scr.2016.06.004

Vancouver

Zhang Y, Schmid B, Nielsen TT, Nielsen JE, Clausen C, Hyttel P o.a. Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific heterozygous mutation in CHMP2B. Stem Cell Research. 2016 jul.;17(1):148-150. https://doi.org/10.1016/j.scr.2016.06.004

Author

Zhang, Yu ; Schmid, Benjamin ; Nielsen, Troels Tolstrup ; Nielsen, Jørgen Erik ; Clausen, Christian ; Hyttel, Poul ; Holst, Bjørn ; Freude, Kristine. / Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific heterozygous mutation in CHMP2B. I: Stem Cell Research. 2016 ; Bind 17, Nr. 1. s. 148-150.

Bibtex

@article{867616d9d85942008a31a53c51ec3ffa,
title = "Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific heterozygous mutation in CHMP2B",
abstract = "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.",
author = "Yu Zhang and Benjamin Schmid and Nielsen, {Troels Tolstrup} and Nielsen, {J{\o}rgen Erik} and Christian Clausen and Poul Hyttel and Bj{\o}rn Holst and Kristine Freude",
year = "2016",
month = jul,
doi = "10.1016/j.scr.2016.06.004",
language = "English",
volume = "17",
pages = "148--150",
journal = "Stem Cell Research",
issn = "1873-5061",
publisher = "Elsevier",
number = "1",

}

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