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EDi001-B-4

AST18-6A

Gene-edited iPSC line

Not released.
The cell line is not released.

General#

Cell Line

hPSCreg name EDi001-B-4
Alternative name(s)
AST18-6A
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines
EDi001-A-1
(AST22-C, AST23-C)
Donor's gene variants:
SNCA, SNCA
Donor diseases:
Parkinson disease
EDi001-A-2
(AST23-1KO-3, AST22-1KO-3, AST-23_SCAKO Clone 3, AST-22_SNCAKO Clone 3)
Donor's gene variants:
SNCA, SNCA, SNCA, SNCA
Donor diseases:
Parkinson disease
EDi001-A-3
(AST23_SNCAKO Clone 1, AST22-1KO-1, AST23-1KO-1, AST22_SNCAKO Clone 1)
Donor's gene variants:
SNCA, SNCA, SNCA, SNCA
Donor diseases:
Parkinson disease
EDi001-A
(AST22, AST23, SAMEA3319992)
Donor's gene variants:
SNCA, SNCA, SNCA
Donor diseases:
Parkinson disease
STBCi024-A
(SFC831-03-01)
Donor's gene variants:
SNCA
Donor diseases:
Parkinson disease
STBCi024-C
(SFC831-03-05)
Donor's gene variants:
SNCA
Donor diseases:
Parkinson disease
STBCi019-C
(SFC828-03-04)
Donor's gene variants:
SNCA
Donor diseases:
Parkinson disease
STBCi023-B
(SFC829-03-04)
Donor's gene variants:
SNCA
Donor diseases:
Parkinson disease
STBCi083-B
(SFC830-04-08)
Donor's gene variants:
SNCA
Donor diseases:
Parkinson disease
STBCi019-A
(SFC828-03-06)
Donor's gene variants:
SNCA
Donor diseases:
Parkinson disease
STBCi019-B
(SFC828-03-09)
Donor's gene variants:
SNCA
Donor diseases:
Parkinson disease
STBCi024-B
(SFC831-03-03)
Donor's gene variants:
SNCA
Donor diseases:
Parkinson disease
EDi008-B
(G51D-4, EDINi008-B, EDIi008-B, SAMEA3174606)
Donor's gene variants:
SNCA, SNCA, SNCA, SNCA
Donor diseases:
Parkinson disease
STBCi023-A
(SFC829-03-02)
Donor's gene variants:
SNCA
Donor diseases:
Parkinson disease
STBCi023-C
(SFC829-03-06)
Donor's gene variants:
SNCA
Donor diseases:
Parkinson disease
STBCi083-A
(SFC830-04-09)
Donor's gene variants:
SNCA
Donor diseases:
Parkinson disease
STBCi004-B-1
(SFC832-03-06 LRRK2WT/WT C47)
Donor's gene variants:
LRRK2
Donor diseases:
Parkinson disease
STBCi004-B
(SFC832-03-06)
Donor's gene variants:
LRRK2
Donor diseases:
Parkinson disease
STBCi004-C
(SFC832-03-07)
Donor's gene variants:
LRRK2
Donor diseases:
Parkinson disease

Provider

Depositor University of Edinburgh (ED)
Distributors
EBiSC

External Databases

hPSCreg EDi001-B-4
BioSamples SAMEA7111753
Cellosaurus CVCL_A1XS
Wikidata Q105506819

General Information

Publications View all related publications on hPSCreg (2)
This EBiSC line can be used for:
Yes
Research use: allowed
Clinical use: no
Commercial use: no
Subclone of (not in EBiSC, see EDi001-B in hPSCreg)

Donor Information#

General Donor Information

Sex female

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
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.
Synonyms
  • Parkinson disease
  • Parkinson's disease
  • paralysis agitans
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

hIPSC Derivation#

General

More source cell information can be found in the parental cell line EDi001-B in hPSCreg.

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
Methods used
RT-PCR

Vector free reprogramming

Other

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

Culture Conditions#

The following are the depositor culture conditions, they do not refer to any specific batch.
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#

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR Flow Cytometry Enzymatic Assay Expression Profiles
NANOG
Yes
POU5F1 (OCT-4)
Yes
Differentiation Potency
Dopaminergic Neuron
Ont Id: BTO_0004032
In vitro directed differentiation

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
Synonyms
  • Parkinson disease
  • Parkinson's disease
  • paralysis agitans
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