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.

The cell lines deposited by Massachusetts General Hospital and Luebeck University 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.

Massachusetts General Hospital 

These cell lines, deposited by Drs. Cristopher Bragg and Nutan Sharma from the Collaborative Center for X-linked Dystonia-Parkinsonism (XDP) at Massachusetts General Hospital, consists of iPSCs reprogrammed fibroblasts from North American donors of Filipino descent.  The cell lines are derived from affected XDP males, female carriers, and unaffected male family member controls. For more information, visit https://www.massgeneral.org/xdp-center/. 

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. 

Additional information regarding age, sex, disease status, and 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.

University of Luebeck 

These cell lines, deposited by Dr. Christine Klein from the University of Luebeck, consists of iPSC lines reprogrammed from fibroblasts from donors still living in the Philippines.  The cell lines are derived from affected XPD males, female carriers and unaffected male controls.  

Cell lines available include genetically related affected and unaffected donors.  Additional information regarding age, sex, disease status, and relationships may be found here.
Cell Lines 45 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
LUEL5748i-2 L-5748 Human iPS X-linked Dystonia Parkinsonism  TAF1 variant (hemizygous carrier)  Male 42 Years Asian > Filipino  No No
LUEL7149i-1 L-7149 Human iPS X-linked Dystonia Parkinsonism  TAF1 variant (hemizygous carrier)  Male 51 Years Asian > Filipino  No No
LUEL7149i-2 L-7149 Human iPS X-linked Dystonia Parkinsonism  TAF1 variant (hemizygous carrier)  Male 51 Years Asian > Filipino  No No
LUEL7153i-1   Human iPS X-linked Dystonia Parkinsonism  TAF1 variant (hemizygous carrier)  Male 36 Years Asian > Filipino  Yes No
LUEL7159i-16   Human iPS X-linked Dystonia Parkinsonism  TAF1 variant (homozygous carrier)  Female 56 Years Asian > Filipino  Yes No
LUEL7159i-7   Human iPS X-linked Dystonia Parkinsonism  TAF1 variant (homozygous carrier)  Female 56 Years Asian > Filipino  Yes No
LUEL7673i-3   Human iPS X-linked Dystonia Parkinsonism  TAF1 variant (hemizygous carrier)  Male 43 Years Asian > Filipino  No No
LUEL7756i-2   Human iPS X-linked Dystonia Parkinsonism  TAF1 variant (hemizygous carrier)  Male 35 Years Asian > Filipino  Yes No
LUEL7756i-4   Human iPS X-linked Dystonia Parkinsonism  TAF1 variant (hemizygous carrier)  Male 35 Years Asian > Filipino  Yes No
LUEL7991i-1   Human iPS None reported    Male 53 Years Asian > Filipino  No No
Cell Lines 45 Cell Lines
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