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Stem Cell Res. 2018 Apr;28:145-148. doi: 10.1016/j.scr.2018.02.014. Epub 2018 Feb 21.

Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage.

Author information

1
IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy.
2
Bicocca University, Biotechnology and Bioscience Department, Piazza della Scienza 2, 20126 Milan, Italy.
3
IRCCS Casa Sollievo della Sofferenza, Cytogenetic Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy.
4
IRCCS Casa Sollievo della Sofferenza, Molecular Genetics Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy.
5
IRCCS Casa Sollievo della Sofferenza, Huntington and Rare Disease Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy.
6
IBPM-CNR Institute of Molecular Biology and Pathology, Italian National Research Council, Rome, Italy.
7
IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy. Electronic address: j.rosati@css-mendel.it.

Abstract

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.

PMID:
29486399
DOI:
10.1016/j.scr.2018.02.014
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