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Proteome profiling of an isogenic CAG allelic panel of Huntington disease hESCs and NPCs

ABSTRACT: Whole proteome profiling and quantification was performed on an isogenic Huntington disease (IsoHD) human embryonic stem cell (hESC) allelic panel. The IsoHD hESCs harbour 30, 45, 65 and 81 CAG repeats in the first exon of HTT. Whole proteome quantification was also performed on neural progenitor cells derived from the IsoHD hESC panel.

ORGANISM(S): Homo Sapiens (human)

SUBMITTER: Mahmoud A. Pouladi

PROVIDER: PXD006585 | JPOST Repository | Thu Feb 14 00:00:00 GMT 2019

REPOSITORIES: jPOST

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Unbiased Profiling of Isogenic Huntington Disease hPSC-Derived CNS and Peripheral Cells Reveals Strong Cell-Type Specificity of CAG Length Effects.

Ooi Jolene J Langley Sarah R SR Xu Xiaohong X Utami Kagistia H KH Sim Bernice B Huang Yihui Y Harmston Nathan P NP Tay Yi Lin YL Ziaei Amin A Zeng Ruizhu R Low Donovan D Aminkeng Folefac F Sobota Radoslaw M RM Ginhoux Florent F Petretto Enrico E Pouladi Mahmoud A MA

Cell reports 20190201 9

In Huntington disease (HD), the analysis of tissue-specific CAG repeat length effects has been challenging, given the difficulty in obtaining relevant patient tissues with a broad range of CAG repeat lengths. We used genome editing to generate an allelic panel of isogenic HD (IsoHD) human embryonic stem cell (hESC) lines carrying varying CAG repeat lengths in the first exon of HTT. Functional analyses in differentiated neural cells revealed CAG repeat length-related abnormalities in mitochondria ...[more]

PMID: 30811996

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