OD005-s9

General

Cell Line

hPSCreg name PFIZi016-A
Cite as:
PFIZi016-A (RRID:CVCL_IJ03)
Alternative name(s)
OD005-s9
Cell line type Human induced pluripotent stem cell (hiPSC)
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SCN1A
Donor diseases:
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Last update 10th March 2020
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Provider

Generator Pfizer Limited - Pfizer (PFIZ)
Distributors

External Databases

BioSamples SAMEA4454950
Cellosaurus CVCL_IJ03
Wikidata Q54947271

General Information

Projects
* Is the cell line readily obtainable for third parties?
Yes
Research use: allowed
Clinical use: not allowed
Commercial use: not allowed

Donor Information

General Donor Information

Sex female
Age of donor (at collection) 15-19

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • SMEI
  • Severe myoclonus epilepsy of infancy
  • Severe myoclonic epilepsy of infancy
Genetic variants
SCN1A (target)
2q24.3
NP_001189364.1:p.Val1352CystfrX5 
Frameshift mutation p.Val1352CystfrX5 
Disease associated phenotypes
  • GTC seizure
  • Developmental delay
  • No truncal ataxia in upright seated position

External Databases (Donor)

BioSamples SAMEA4454949

Ethics

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? No
Can you provide us with a copy of the Donor Information Sheet provided to the donor? No
Provide contact information of the holder of the original Donor Information Sheet: Dr Orrin Devinsky
Do you (Depositor/Provider) hold the original Donor Consent Form? Yes
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 been informed about how her/his data will be protected? Yes
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 expressly prevent the derivation of pluripotent stem cells? No
Does consent pertain to a specific research project? Yes
Details on restriction to research project Dravet Syndrome / Epilepsy
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? Yes
Does consent expressly permit storage of donated embryo/tissue for an unlimited time? Yes
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

Does consent permit research by

an academic institution? Yes
a public organisation? Yes
a non-profit company? Yes
a for-profit corporation? Yes
How may genetic information associated with the cell line be accessed? 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
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? NYU Institutional Review Board
Approval number i14-01725
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? NYU Institutional Review Board
Approval number i14-01725
Do you have obligations to third parties in regard to the use of the cell line? Yes
Please describe: Restricted to research into Dravet Syndrome/Epilepsy
Are you aware of any further constraints on the use of the donated embryo/tissue or derived cells? Yes
Further constraints on use Restricted to research into Dravet Syndrome/Epilepsy
For generation of the cell line, who was the supplier of any recombined DNA vectors or commercial kits used?
Are you aware of any constraints on the use or distribution of the cell line from the owner or any parties identified in the query above? No

hIPSC Derivation

General

Source cell type
A nucleated precursor of an erythrocyte that lacks hematopoietic lineage markers.
Synonyms
  • normoblast
Source cell type (free text) Blood - PBMC erythroblasts
Age of donor (at collection) 15-19

Reprogramming method

Vector type Non-integrating
Vector Sendai virus
Genes

Vector free reprogramming

Type of used vector free reprogramming factor(s)
None

Other

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

Culture Conditions

Surface coating Matrigel/Geltrex
Feeder cells
No
Passage method Enzyme-free cell dissociation
EDTA
O2 Concentration 21 %
CO2 Concentration 5 %
Medium Essential 8™

Characterisation

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR Flow Cytometry Enzymatic Assay Expression Profiles
POU5F1 (OCT-4)
Yes
SSEA-1
No
SSEA-4
Yes
TRA 1-60
Yes
Self-renewal
Negative
Endoderm
Unknown
Mesoderm
Unknown
Ectoderm score
Unknown
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
Scorecard
Mesoderm
Ont Id: UBERON_0000926
Scorecard
Ectoderm
Ont Id: UBERON_0000924
Scorecard

Microbiology / Virus Screening

HIV 1 Negative
HIV 2 Negative
Hepatitis B Negative
Hepatitis C Negative
Mycoplasma Negative

Certificate of Analysis

Is there a certificate of analysis available?
Yes
Passage: 20

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
No autosomal or sex chromosome aneuplodies were detected
Passage number: 20
Karyotyping method: BoBs

Other Genotyping (Cell Line)