The iPSC collection serves as a model for X-linked Dystonia Parkinsonism (XDP), a rare, neurodegenerative movement disorder that primarily affects Filipino men from the island of Panay.   Affected individuals typically develop dystonic symptoms in adulthood which worsen over time to include features of Parkinson's disease.  The disease mechanisms are not known, but limited neuropathology data suggest a specific loss of medium spiny neurons within the striatium.  The pathogenic genetic lesion has not yet been conclusively identified, although an XDP-specific haplotype has been reported, consisting of 7 sequence variants on the X chromosome.  These markers include 5 single nucleotide substitutions, a 48-bp deletion, and a 2.6 kb retrotransposon insertion.   All but one of these variants fall within noncoding regions of the genome; the remaining single nucleotide substitution alters an unconventional exon which may generate a possible gene product.  There are multiple genes within this region of the X chromosome.  The disease variants largely cluster in and around the TAF1 gene, which encodes the TATA-Binding Protein-Associated Factor-1 (TAF1) that is part of the general transcriptional machinery. 

This  collection consists of iPSC clones derived from 4 affected XDP males, 4 heterozygous female carriers, and 5 unaffected male family member controls.  Affected males and carrier females are positive for 6 of the haplotype markers (presence of the 48-bp deletion was not tested), whereas control male relatives have wild-type sequences at all positions and appeared neurologically normal upon exam.

The cell lines have been deposited by Drs. Cristopher Bragg and Nutan Sharma from the Collaborative Center for X-linked Dystonia-Parkinsonism at Massachusetts General Hospital.



For more information, visit www.massgeneral.org/XDP-center.

Additional information regarding age, sex, status, and relationships may be found here.



The publication describing this collection of iPSCs may be found here.