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EDi001-A

Donor information

Gender:Female
Age:50-54

Disease status

Disease: Parkinson's disease
This is a PD line, with the control being EDi002-A lines and CRISPR/Cas9-corrected EDi001-A-1, EDi001-A-2, EDi001-A-3 and EDi001-A-4
Affected: Yes
Disease variant
Gene: SNCA
Chromosome location: 4q22.1
Zygosity: Heterozygous
Description: The donor carries a triplication of the alpha-synuclein gene, resulting in 4 copies of SNCA. The copies of SNCA are situated in a heterozygous triplication configuration. See Figure 1 of Petrucci, 2015 for a graphic representation of the heterozygous triplication.
Disease associated phenotypes:Severe PD with dementia
Family history:Strong family history of Parkinson’s disease due to autosomal dominant inheritance of SNCA triplication
Medical history:Y Mov Disord. 2011 Sep;26(11):2134-6. doi: 10.1002/mds.23776

General information

Depositor:University of Edinburgh
Cell line name:EDi001-A
Cell line alternative names:AST22, AST23, SAMEA3319992
Biosamples ID:SAMEA3319992
hPSCreg name:EDi001-A
Derivation country:United States

Related lines

Subclones: EDi001-A-1, EDi001-A-2, EDi001-A-3, EDi001-A-4
Lines from donor's relatives:

has daughter ( disease status: normal )
EDi002-A

Timepoint: Confluence
Magnification: 4x
Timepoint: Confluence
Magnification: 10x
At European Collection of Authenticated Cell Cultures (ECACC)
In stock
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