X-linked Dystonia Parkinsonism

This 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 neuropathology of XDP has not yet been fully defined, but previous studies have reported a progressive loss of striatal medium spiny neurons in the brains of individuals with XDP.

Recent research studies have shown that XDP is most likely caused by a disease-specific SINE-VNTR-Alu (SVA)-type retrotransposon insertion in an intron of the human TAF1 gene.  The SVA contains a hexameric sequence (CCCTCT)n, the length of which is polymorphic among patients and inversely correlated to age of disease onset.  The insertion results in aberrant TAF1 mRNA splicing and partial intron retention which decreases levels of the full-length transcript.

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 the SVA and as well as 5 single nucleotide substitutions specific to the XDP haplotype, 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 to PD, repeat expansion diseases like Huntington’s disease 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 https://www.massgeneral.org/xdp-center/.

Additional information regarding relationships may be found here.

The publication describing this collection of X-linked Dystonia Parkinsonism iPSCs may be found here.

A publication containing supplementary information describing the characterization of the female carrier cell lines in this collection may be found here.

A publication using cell lines from this collection that describes the identification of a specific genetic change that may be the cause of X-linked Dystonia Parkinsonism may be found here.

Cell Lines 19 Cell Lines
Show records
<
1
2
Go to page Go
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
Show records
<
1
2
Go to page Go