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

Journal of Human Genetics

Volumn 57, Issue 9, 2012, Pages 580-586

  Shimojima, Keiko ^a,b   Inoue, Takahito ^c   Imai, Yuki ^d   Arai, Yasuhiro ^e   Komoike, Yuta ^b   Sugawara, Midori ^b   Fujita, Takako ^c   Ideguchi, Hiroshi ^c   Yasumoto, Sawa ^c   Kanno, Hitoshi ^b   Hirose, Shinichi ^c   Yamamoto, Toshiyuki ^b  

^a JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^c FUKUOKA UNIVERSITY   (Japan)

^d NIHON UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e Tokyo Metropolitan Coll   (Japan)

Author keywords

dysmyelination; induced pluripotent stem (iPS) cells; partial duplication; Pelizaeus Merzbacher disease (PMD); proteolipid protein 1 gene (PLP1)

Indexed keywords

KRUPPEL LIKE FACTOR 4; OCTAMER TRANSCRIPTION FACTOR 4; PROTEOLIPID PROTEIN; PROTEOLIPID PROTEIN 1; RETROVIRUS VECTOR; TRANSCRIPTION FACTOR SOX2; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME DUPLICATION; CONTROLLED STUDY; GENE DUPLICATION; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; NORTHERN BLOTTING; ONCOGENE C MYC; PELIZAEUS MERZBACHER DISEASE; PLURIPOTENT STEM CELL; PRESCHOOL CHILD; SKIN FIBROBLAST;

ADOLESCENT; ANIMALS; BASE SEQUENCE; BRAIN; CELL LINE, TUMOR; CHILD, PRESCHOOL; CHROMOSOME BREAKPOINTS; FEMALE; GENE DUPLICATION; GENE EXPRESSION REGULATION; GENOTYPE; HUMANS; INDUCED PLURIPOTENT STEM CELLS; MAGNETIC RESONANCE IMAGING; MALE; MICE; MIDDLE AGED; MUTATION; MYELIN PROTEOLIPID PROTEIN; PELIZAEUS-MERZBACHER DISEASE;

IPS; RETROVIRIDAE;

EID: 84866841255     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2012.71     Document Type: Article

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