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

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#

We are currently revising this section.

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.