AST22-C, AST23-C

General#

Cell Line

hPSCreg Name EDi001-A-1
Alternative name(s)
AST22-C, AST23-C
Cell line type Human induced pluripotent stem cell (hiPSC)
Last update 6th July 2017
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Provider

Generator University of Edinburgh (ED)
Owner College of Medicine and Veterinary Medicine
Distributors
Derivation country United States

External Databases

BioSamples SAMEA3323836
Cellosaurus CVCL_LE51
ECACC 66540166
EBiSC EDi001-A-1

General Information

Projects
Is the cell line available in principle? Available, without restrictions
Subclone of

Donor Information#

General Donor Information

Sex female

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
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
The donor is affected.
Synonyms
  • Parkinson's syndrome
  • Parkinsons
  • Primary Parkinsonism
  • Parkinsons disease
  • Parkinson disease
  • Parkinson's disease (disorder)
  • Parkinson's disease NOS
  • Parkinson Disease, Idiopathic
  • PARKINSON DIS
  • Paralysis agitans
  • IDIOPATHIC PARKINSONS DIS
  • PARKINSON DIS IDIOPATHIC
  • Parkinsonism, Primary
  • Parkinson's Disease, Lewy Body
  • IDIOPATHIC PARKINSON DIS
  • Idiopathic PD
  • Idiopathic Parkinson Disease
  • Lewy Body Parkinson's Disease
  • Parkinsonian disorder
  • LEWY BODY PARKINSON DIS
  • Parkinson's
  • Idiopathic Parkinson's Disease
  • Parkinson's disease NOS (disorder)
  • Lewy Body Parkinson Disease
  • PARKINSONS DIS IDIOPATHIC
  • PARKINSONS DIS
  • Parkinson's Disease, Idiopathic
  • Parkinson syndrome
  • PARKINSONS DIS LEWY BODY
show more synonyms
Genetic variants
SCNA (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.
Disease associated phenotypes
  • Severe PD with dementia
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

Karyotyping (Donor)

Has the donor karyotype been analysed?
No

Donor Relations

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 .
Has informed consent been obtained from the donor of the embryo/tissue from which the pluripotent stem cells have been derived? Yes
Was the consent voluntarily given? Yes
Has the donor been informed that participation will not directly influence their personal treatment? Yes
Can you provide us with a copy of the Donor Information Sheet provided to the donor? Yes
Provide contact information of the holder of the original Donor Information Sheet:
Do you (Depositor/Provider) hold a copy of the SIGNED Donor Consent Form? No
If you do not hold the SIGNED Donor Consent Form, do you know who does? Yes
Contact information / weblink A.Schapira
If you do not hold the SIGNED Donor Consent Form, have you obtained a copy of the unsigned Donor Consent Form from the holder? No
Alternatives to consent
Alternative consent approval number
Is there other documentation provided to the donor for consenting purposes? No
Confirm that consent was obtained by a qualified professional Yes
Has the donor agreed to be re-contacted? No
Please indicate whether the data associated with the donated material has been pseudonymised or anonymised. pseudonymised
Does consent explicitly allow the derivation of pluripotent stem cells? Yes
Does consent pertain to a specific research project? No
Details on restriction to research project
Does consent permit unforeseen future research, without further consent? Yes
Does the consent permit uses of donated embryo/tissue or derived cell line intended for clinical treatment or human applications? No
Does consent expressly prevent development of commercial products? No
Does consent expressly prevent financial gain from any use of the donated embryo/tissue, including any product made from it? No
Does consent prevent the DONATED BIOSAMPLE from being made available to researchers anywhere in the world? No
Does consent prevent CELLS DERIVED FROM THE DONATED BIOSAMPLE from being made available to researchers anywhere in the world? Yes
an academic institution? Yes
a public organisation? Yes
a non-profit company? Yes
a for-profit corporation? Yes
Does consent expressly permit collection of genetic information? Yes
Has the donor been informed that their donated biosample or derived cells may be tested for the presence of microbiological agents / pathogens? Yes
Policy for access to genetic information Controlled Access
Will the donor expect to receive financial benefit, beyond reasonable expenses, in return for donating the biosample? No
Does the consent permit the donor, upon withdrawal of consent, to stop the use of the derived cell line(s) that have already been created from donated samples? No
Does the consent permit the donor, upon withdrawal of consent, to stop delivery or use of information and data about the donor? No
Does consent permit access to medical records of the donor? No
Please describe how access is provided:
Does consent permit access to any other source of information about the clinical treatment or health of the donor? No
Contact data, institution, or website:
Has a favourable opinion been obtained from a research ethics committee, or other ethics review panel, in relation to the Research Protocol including the consent provisions? Yes
Name of accrediting authority involved? Royal Free Hospital
Approval number 07/H0720/161
Has a favourable opinion been obtained from a research ethics committee, or other ethics review panel, in relation to the PROPOSED PROJECT, involving use of donated embryo/tissue or derived cells? Yes
Name of accrediting authority involved? Royal Free Hospital
Approval number 07/H0720/161
Do you have obligations to third parties in regard to the use of the cell line? No
Please describe:
Are you aware of any further constraints on the use of the donated embryo/tissue or derived cells? No
Further constraints on use

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?
No
Absence of reprogramming vector(s)?
Unkown
Reprogramming vectors silenced?
Yes
Methods used
Immunostaining, RT-PCR

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 Enzymatically
Accutase
O2 Concentration 95 %
CO2 Concentration 5 %
Medium Essential 8™
Supplements
Rock inhibitor added while passaging 10 nM

Characterisation#

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR FACS Enzymatic Assay Expression Profiles
TRA 1-60
Yes
SSEA-4
Yes
POU5F1 (OCT-4)
Yes
SSEA-1
No
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro spontaneous differentiation
Mesoderm
Ont Id: UBERON_0000926
In vitro spontaneous differentiation
Ectoderm
Ont Id: UBERON_0000924
In vitro spontaneous differentiation

Microbiology / Virus Screening

HIV 1 Not done
HIV 2 Not done
Hepatitis B Not done
Hepatitis C Not done
Mycoplasma Negative

Genotyping#

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
No

Other Genotyping (Cell Line)

Genetic Modification#

Disease/phenotype related modifications
Parkinson's disease
Synonyms
  • Parkinson's syndrome
  • Parkinsons
  • Primary Parkinsonism
  • Parkinsons disease
  • Parkinson disease
  • Parkinson's disease (disorder)
  • Parkinson's disease NOS
  • Parkinson Disease, Idiopathic
  • PARKINSON DIS
  • Paralysis agitans
  • IDIOPATHIC PARKINSONS DIS
  • PARKINSON DIS IDIOPATHIC
  • Parkinsonism, Primary
  • Parkinson's Disease, Lewy Body
  • IDIOPATHIC PARKINSON DIS
  • Idiopathic PD
  • Idiopathic Parkinson Disease
  • Lewy Body Parkinson's Disease
  • Parkinsonian disorder
  • LEWY BODY PARKINSON DIS
  • Parkinson's
  • Idiopathic Parkinson's Disease
  • Parkinson's disease NOS (disorder)
  • Lewy Body Parkinson Disease
  • PARKINSONS DIS IDIOPATHIC
  • PARKINSONS DIS
  • Parkinson's Disease, Idiopathic
  • Parkinson syndrome
  • PARKINSONS DIS LEWY BODY
show more synonyms
Genetic modifications
SNCA (target)
Isogenic modification
4q22.1
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.
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.