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EDi001-A-1 Gene-edited iPSC line

Donor information

Gender:Female

Disease status

Donor

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

Disease/phenotype related genetic modifications

Disease: Parkinson's disease
Type of modification: Isogenic
Gene: SNCA
Chromosome location: 4q22.1
Target locus modification: This clone was picked in parallel to other Nickase pair targeted clones (EDi001-A2/A3 and A4) but no SNCA alleles were lost in this clone. Therefore all 4 alleles remain, and it retains the donor heterozygous triplication of SCNA.
Description: CRISPR/Cas was employed to create a mutation in Exon2, disrupting the ATG start site of SCNA. The site targeted for editing was sequenced for 8 clones; however, in these 8 clones, none of the sites had been modified. Therefore, it appears that the cell line had not been edited. The clone was not further examined for off-target modifications.

General information

Depositor:University of Edinburgh
Cell line name:EDi001-A-1
Cell line alternative names:AST22-C, AST23-C
Biosamples ID:SAMEA3323836
hPSCreg name:EDi001-A-1
Derivation country:United States

Related lines

Derived from: EDi001-A
All subclones of EDi001-A: EDi001-A-1, EDi001-A-2, EDi001-A-3, EDi001-A-4
Lines from donor's relatives:

has daughter ( disease status: normal )
EDi002-A

At European Collection of Authenticated Cell Cultures (ECACC)
In stock
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