hPSCreg®
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EDi001-A-5

Registration Summary:

AST23-2KO-II8B

EDi001-A-5

General

Cell Line
hPSCreg Name
EDi001-A-5
Alternative name(s)
AST23-2KO-II8B
Cell line type Human induced pluripotent stem cell (hiPSC)
Last update 14th May 2022
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Provider
Generator University of Edinburgh (ED)
Distributors

External Databases
BioSamples SAMEA7111748
CLO CLO_0103007

General Information
Publications
* Is the cell line readily obtainable for third parties?
Yes
Research use: allowed
Clinical use: not allowed
Commercial use: not allowed
Subclone of

Donor Information

General Donor Information
Sex female

Phenotype and Disease related information (Donor)
Diseases A disease was diagnosed.
Parkinson disease
Parkinson disease in the OLS
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
The donor is a carrier of a disease-associated mutation and affected.
Genetic variants
SNCA (target)
4q22.1
Heterozygous
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
Is the medical history available upon request? Y Mov Disord. 2011 Sep;26(11):2134-6. doi: 10.1002/mds.23776

Donor Relations
Other cell lines of this donor
All cell lines of this donor's relatives
Has daughter:

External Databases (Donor)
BioSamples SAMEA3319991

Ethics

Also have a look at the ethics information for the parental line EDi001-A .
For generation of the cell line, who was the supplier of any recombined DNA vectors or commercial kits used?

hIPSC Derivation

General
The source cell information can be found in the parental cell line EDi001-A.

Reprogramming method
Vector type Integrating
Vector Virus (Retrovirus)
Genes
Is the used vector excisable?
Unknown
Absence of reprogramming vector(s)?
Unknown
Reprogramming vectors silenced?
Yes

Vector free reprogramming

Other
Derived under xeno-free conditions
No
Derived under GMP?
No
Available as clinical grade?
No

Culture Conditions

Surface coating Laminin
Feeder cells
No
Passage method Enzyme-free cell dissociation
EDTA
O2 Concentration 21 %
CO2 Concentration 5 %
Medium Other medium:
Base medium: StemMACS™ iPS-Brew XF
Main protein source:
Serum concentration: %

Characterisation

No characterisation data could be found for this subclone. Please open parental cell line EDi001-A .

Genotyping

Karyotyping (Cell Line)
Has the cell line karyotype been analysed?
Yes
No gross chromosomal abnormalities
Karyotyping method: Molecular karyotyping by SNP array
http://

Other Genotyping (Cell Line)

Genetic Modification

Disease/phenotype related modifications
Parkinson disease
Parkinson disease in the OLS
Genetic modifications
SNCA (target)
Gene knock-out
4q22.1
The SNCA 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 SNCA. 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.
CRISPR-associated (CRISPR/Cas) System