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EDi001-A-4 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.
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: Gene knock-out
Gene: SNCA
Chromosome location: 4q22.1
Delivery method: CRISPR-associated (CRISPR/Cas) System
Description: The SCNA triplication has been gene edited to become *putatively* normal. CRISPR/Cas was employed to create a mutation in Exon2, disrupting the ATG start site and some sequence 5' to the coding start of SCNA. PCR amplicons of the CRISPR site were cloned using the TOPO cloning technique. Sequencing of 8 TOPO clones detected 2 deletions, both of which disrupt the first ATG start site. This indicates 2 alleles were putatively knocked out, and 2 alleles remain. Additional comment: there are two additional ATG sites located immediately downstream of the normal ATG start site, one of which is in-frame (9 bases) to the initial ATG. It is possible that inactivation of the first ATG start site might not be completely sufficient to prevent translation from the second downstream ATG, which is in-frame to the first.

General information

Depositor:University of Edinburgh
Cell line name:EDi001-A-4
Cell line alternative names:AST22-2KO-6, AST23_SNCAKO Clone 6, AST22_SNCAKO Clone 6, AST23-2KO-6
Biosamples ID:SAMEA3323960
hPSCreg name:EDi001-A-4
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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