X-linked Dystonia Parkinsonism

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 affected XDP males, heterozygous female carriers, and 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 collection may be useful for investigators probing cellular defects specific to XDP, pathways linking dystonia and PD, and/or mechanisms of X-inactivation as they relate to X-linked disorders.

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.

Cell Lines 19 Cell Lines
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Cell Line Cell Line Alias Cell Type Disease Genetic Alteration/Mutation Sex Age at Collection Ethnicity Genetically Related Cell Lines dbGaP Data
MIN01i-32517.A 32517 Human iPS X-linked Dystonia Parkinsonism TAF1 Variant Male 35 years Yes No
MIN02i-32517.B 32517 Human iPS X-linked Dystonia Parkinsonism TAF1 Variant Male 35 years Yes No
MIN03i-32642.B 32642 Human iPS Carrier of X-linked Dystonia Parkinsonism TAF1 Variant (heterozygous carrier) Female 71 years Yes No
MIN04i-33109.2B 33109 Human iPS X-linked Dystonia Parkinsonism TAF1 Variant Male 72 years Yes No
MIN05i-33110.2F 33110 Human iPS Carrier of X-linked Dystonia Parkinsonism TAF1 Variant (heterozygous carrier) Female 44 years Yes No
MIN06i-33110.2H 33110 Human iPS Carrier of X-linked Dystonia Parkinsonism TAF1 Variant (heterozygous carrier) Female 44 years Yes No
MIN09i-33114.C 33114 Human iPS None reported Male 34 years Yes No
MIN10i-33360.A 33360 Human iPS Carrier of X-linked Dystonia Parkinsonism TAF1 Variant (heterozygous carrier) Female 13 years Yes No
MIN11i-33360.B 33360 Human iPS Carrier of X-linked Dystonia Parkinsonism TAF1 Variant (heterozygous carrier) Female 13 years No No
MIN12i-33362.C 33362 Human iPS None reported Male 18 years Yes No
Cell Lines 19 Cell Lines
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