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Induced pluripotent stem cells (iPSC) created from skin fibroblasts of patients with Prader-Willi syndrome (PWS) retain the molecular signature of PWS.

Authors :
Burnett, Lisa C.
LeDuc, Charles A.
Sulsona, Carlos R.
Paull, Daniel
Eddiry, Sanaa
Levy, Brynn
Salles, Jean Pierre
Tauber, Maithe
Driscoll, Daniel J.
Egli, Dieter
Leibel, Rudolph L.
Source :
Stem Cell Research; Nov2016, Vol. 17 Issue 3, p526-530, 5p
Publication Year :
2016

Abstract

Prader-Willi syndrome (PWS) is a syndromic obesity caused by loss of paternal gene expression in an imprinted interval on 15q11.2-q13. Induced pluripotent stem cells were generated from skin cells of three large deletion PWS patients and one unique microdeletion PWS patient. We found that genes within the PWS region, including SNRPN and NDN , showed persistence of DNA methylation after iPSC reprogramming and differentiation to neurons. Genes within the PWS minimum critical deletion region remain silenced in both PWS large deletion and microdeletion iPSC following reprogramming. PWS iPSC and their relevant differentiated cell types could provide in vitro models of PWS. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
18735061
Volume :
17
Issue :
3
Database :
Supplemental Index
Journal :
Stem Cell Research
Publication Type :
Academic Journal
Accession number :
120158543
Full Text :
https://doi.org/10.1016/j.scr.2016.08.008