Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication.

Shimojima, Keiko

Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication. [electronic resource] - Journal of human genetics Sep 2012 - 580-6 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1435-232X

10.1038/jhg.2012.71 doi


Adolescent
Animals
Base Sequence
Brain--pathology
Cell Line, Tumor
Child, Preschool
Chromosome Breakpoints
Female
Gene Duplication
Gene Expression Regulation
Genotype
Humans
Induced Pluripotent Stem Cells--metabolism
Kruppel-Like Factor 4
Magnetic Resonance Imaging
Male
Mice
Middle Aged
Mutation
Myelin Proteolipid Protein--genetics
Pelizaeus-Merzbacher Disease--diagnosis