Gene-edited iPSC line

The cell line is not available.


Cell Line

hPSCreg Name EDi001-A-5
Alternative name(s)
Cell line type Human induced pluripotent stem cell (hiPSC)


Depositor University of Edinburgh (ED)
European Collection of Authenticated Cell Cultures (ECACC)

External Databases

hPSCreg EDi001-A-5
BioSamples SAMEA7111748
CLO CLO_0103007

General Information

Publications View all related publications on hPSCreg (1)
* Is the cell line readily obtainable for third parties?
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
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)
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

hIPSC Derivation#


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

Reprogramming method

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

Vector free reprogramming


Derived under xeno-free conditions
Derived under GMP?
Available as clinical grade?

Culture Conditions#

The following are the depositor culture conditions, they do not refer to any specific batch.
Surface coating Laminin
Feeder cells
Passage method Enzyme-free cell dissociation
O2 Concentration 21 %
CO2 Concentration 5 %
Medium Other medium:
Base medium: StemMACS™ iPS-Brew XF
Main protein source:
Serum concentration: %


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


Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
No gross chromosomal abnormalities
Karyotyping method: Molecular karyotyping by SNP array

Other Genotyping (Cell Line)

Genetic Modification#

Disease/phenotype related modifications
Parkinson disease
Genetic modifications
SNCA (target)
Gene knock-out
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