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

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• 作者：Lisa C. Burnett^a ; ^b ; ^c ; ^{lmc2200@cumc.columbia.edu} ; Charles A. LeDuc^b ; ^c ; ^d ; Carlos R. Sulsona^e ; ^{sulsonac@ufl.edu} ; Daniel Paull^f ; ^{dpaull@nyscf.org} ; Sanaa Eddiry^g ; ^{eddiry@gmail.com} ; Brynn Levy^h ; ^{bl2185@cumc.columbia.edu} ; Jean Pierre Salles^g ; ⁱ ; ^{salles.jp@chu-toulouse.fr} ; Maithe Tauber^g ; ⁱ ; ^j ; ^{tauber.mt@chu-toulouse.fr} ; Daniel J. Driscoll^e ; ^{driscdj@peds.ufl.edu} ; Dieter Egli^b ; ^c ; ^f ; ^{de2220@cumc.columbia.edu} ; Rudolph L. Leibel^b ; ^c ; ^d ; ^{rl2332@cumc.columbia.edu}
• 刊名：Stem Cell Research
• 出版年：2016
• 出版时间：November 2016
• 年：2016
• 卷：17
• 期：3
• 页码：526-530
• 全文大小：417 K
• 卷排序：17

文摘

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.