Large family cohorts of lymphoblastoid cells provide a new cellular model for investigating facioscapulohumeral muscular dystrophy

Highlights • Genetic characterization of lymphoblastoid cell lines from 12 large FSHD1 families. • Relevant FSHD gene expression and DNA methylation in lymphoblastoid lines. • Cellular model for FSHD gene expression suitable for therapeutic screening.

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2017-03, Vol.27 (3), p.221-238
Main Authors: Jones, Takako I, Himeda, Charis L, Perez, Daniel P, Jones, Peter L
Format: Article
Language:English
Subjects:
Cell Line
D4Z4
Disease model
DNA methylation
DNA Methylation - genetics
DUX4
Epigenesis, Genetic - genetics
Epigenetic
Female
FSHD
Humans
Male
Muscular Dystrophy, Facioscapulohumeral - genetics
Neurology
Pedigree
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Description
Summary:Highlights • Genetic characterization of lymphoblastoid cell lines from 12 large FSHD1 families. • Relevant FSHD gene expression and DNA methylation in lymphoblastoid lines. • Cellular model for FSHD gene expression suitable for therapeutic screening.
ISSN:0960-8966
1873-2364
1873-2364
DOI:10.1016/j.nmd.2016.12.007