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Characteristics of induced pluripotent stem cells from clinically divergent female monozygotic twins with Danon disease

Shohei Yoshida,Chiaki Nakanishi,Hirofumi Okada,Masayuki Mori,Junichiro Yokawa,Tsuyoshi Yoshimuta,Kunio Ohta,Tetsuo Konno,Noboru Fujino,Masa-aki Kawashiri,Akihiro Yachie,Masakazu Yamagishi,Kenshi Hayashi

Journal of Molecular and Cellular Cardiology（2018）

Cited 17|Views50
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Abstract
•iPSC-CMs with mutant LAMP2 were generated from each clinically divergent female twin.•Mutant LAMP2 expressed iPSC-CMs displayed autophagy flux impairment.•In vitro phenotype of iPSC-CMs did not rely on the clinical phenotype of the host.•X chromosome inactivation elucidates the difference in LAMP2 expression.
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Key words
DD,LAMP2,XCI,iPSCs,iPSC-CMs,PBMCs,mAb,MEFs,KSR,bFGF,AVs,tfLC3,TEM,H3K27me3,AR
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