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Cell Type
|
Human iPS |
|
Disease
|
X-linked Dystonia Parkinsonism |
|
Diagnosis Information
|
Diagnosis of X-linked Dystonia Parkinsonism was physician reported. Age of diagnosis was 40 years. |
|
Genetic Alteration/Mutation
|
TAF1 variant (hemizygous carrier) |
|
Sex
|
Male |
|
Age at Collection
|
43 Years |
|
Ethnicity
|
Asian > Filipino |
|
Ethnicity Information
|
Panay Ancestry |
|
Genetically Related Cell Lines
|
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|
Reprogramming Method
|
Non-integrating (Sendai: Oct4, Klf4, Sox2, cMyc) |
|
Tissue Origin
|
Skin Fibroblast |
|
Provider
|
University of Luebeck - Dr. Christine Klein, Dr. Karen Gruetz, Dr. Philip Seibler
|
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dbGaP Data
|
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hPSCReg ID
|
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NIH Approval
|
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Pub Med Abstract
|
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Collection(s)
|
X-linked Dystonia Parkinsonism
|
