TY - JOUR
T1 - Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage
AU - Bidollari, Eris
AU - Rotundo, Giovannina
AU - Ferrari, Daniela
AU - Candido, Ornella
AU - Bernardini, Laura
AU - Consoli, Federica
AU - De Luca, Alessandro
AU - Santimone, Iolanda
AU - Lamorte, Giuseppe
AU - Ilari, Andrea
AU - Squitieri, Ferdinando
AU - Vescovi, Angelo Luigi
AU - Rosati, Jessica
N1 - Funding Information:
This work was supported by grants from the Italian Ministry of Health: Ricerca corrente 2017 to JR and Ricerca corrente 2017 to FS, RF-2016-02364123 to FS.
Funding Information:
This work was supported by grants from the Italian Ministry of Health : Ricerca corrente 2017 to JR and Ricerca corrente 2017 to FS, RF-2016-02364123 to FS.
Publisher Copyright:
© 2018 The Authors
Copyright:
Copyright 2018 Elsevier B.V., All rights reserved.
PY - 2018/4
Y1 - 2018/4
N2 - Huntington's disease (HD) is an incurable, autosomal dominant, hereditary neurodegenerative disorder that typically manifests itself in midlife. This pathology is linked to the deregulation of multiple, as yet unknown, cellular processes starting before HD onset. A human iPS cell line was generated from skin fibroblasts of a subject at the presymptomatic life stage, carrying a polyglutamine expansion in HTT gene codifying Huntingtin protein. The iPSC line contained the expected CAG expansion, expressed the expected pluripotency markers, displayed in vivo differentiation potential to the three germ layers and had a normal karyotype.
AB - Huntington's disease (HD) is an incurable, autosomal dominant, hereditary neurodegenerative disorder that typically manifests itself in midlife. This pathology is linked to the deregulation of multiple, as yet unknown, cellular processes starting before HD onset. A human iPS cell line was generated from skin fibroblasts of a subject at the presymptomatic life stage, carrying a polyglutamine expansion in HTT gene codifying Huntingtin protein. The iPSC line contained the expected CAG expansion, expressed the expected pluripotency markers, displayed in vivo differentiation potential to the three germ layers and had a normal karyotype.
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U2 - 10.1016/j.scr.2018.02.014
DO - 10.1016/j.scr.2018.02.014
M3 - Article
C2 - 29486399
AN - SCOPUS:85042460767
SN - 1873-5061
VL - 28
SP - 145
EP - 148
JO - Stem Cell Research
JF - Stem Cell Research
ER -