2890 (GBA W378G, heterozygous), 2890

General

Cell Line

hPSCreg Name
CBIGi002-A
Alternative name(s)
2890 (GBA W378G, heterozygous), 2890
Cell line type Human induced pluripotent stem cell (hiPSC)
Last update 14th April 2022
Notes Heterozygous GBA W378G (also known as p.W417G) mutation was confirmed by sequencing after reprogramming.
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Provider

Generator Clinical Biospecimen Imaging and Genetic (C-BIG) Repository (CBIG)
Distributors
Derivation country Canada

External Databases

BioSamples SAMEA13200837
CLO CLO_0103793
Cellosaurus CVCL_C0K6
Wikidata Q112929370

General Information

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

Donor Information

General Donor Information

Sex female
Age of donor (at collection) 60-64

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
Parkinson's Disease
The donor is a carrier of a disease-associated mutation.
Synonyms
  • Parkinson Disease
  • Parkinson's disease
  • Parkinson's Disease
Genetic variants
GBA (target)
1q21
NM_000157.4:c.1249T>G+/-
NP_000148.2:p.Trp417Gly+/- (also known as p.Trp378Gly)
Heterozygous

Karyotyping (Donor)

Has the donor karyotype been analysed?
Unknown

External Databases (Donor)

BioSamples SAMEA13200845

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? Yes
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: cbig_management.mni@mcgill.ca
Do you (Depositor/Provider) hold the original Donor Consent Form? No
If you do not hold the Donor Consent Form, do you know who does? Yes
Contact information / weblink cbig_management.mni@mcgill.ca
Alternatives to consent are available? No
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. anonymised
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? No
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 expressly permit storage of donated embryo/tissue for an unlimited time? Yes
Does consent expressly permit storage of cells derived from the 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? No

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 anticipate that the donor will be notified of results or outcomes of any research involving the donated samples or derived cells? 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? Yes
Does the consent permit the donor, upon withdrawal of consent, to stop delivery or use of information and data about the donor? Yes
Does consent permit access to medical records of the donor? Yes
Please describe how access is provided: Controlled access: cbig_management.mni@mcgill.ca
Does consent permit access to any other source of information about the clinical treatment or health of the donor? Yes
Contact data, institution, or website: Controlled access: cbig_management.mni@mcgill.ca
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? McGill University Health Centre Research Ethics Board (MUHC REB)
Approval number C-BIG(MUHC-15-944) (CRU)
Do you have obligations to third parties in regard to the use of the cell line? No
Are you aware of any further constraints on the use of the donated embryo/tissue or derived cells? No
For generation of the cell line, who was the supplier of any recombined DNA vectors or commercial kits used?

hIPSC Derivation

General

Source cell type
Peripheral Blood Mononuclear Cell
A peripheral blood cell with a single nucleus. This category includes lymphocytes and monocytes.
Synonyms
  • PERIPHERAL BLOOD MONONUCLEAR CELL
  • Peripheral Blood Mononuclear Cell
  • Peripheral Blood Mononuclear cells
  • PBMC
show more synonyms
Age of donor (at collection) 60-64

Reprogramming method

Vector type Non-integrating
Vector Episomal
Genes
Is reprogramming vector detectable?
No
Methods used
PCR

Vector free reprogramming

Other

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

Culture Conditions

Surface coating Matrigel/Geltrex
Feeder cells
No
Passage method Enzyme-free cell dissociation
Gentle Cell Dissociation Reagent
Medium mTeSR™ 1

Characterisation

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR FACS Enzymatic Assay Expression Profiles
NANOG
Yes
POU5F1 (OCT-4)
Yes
SSEA-4
Yes
TRA 1-60
Yes
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro directed differentiation
Marker Expressed
FOXA2
Yes
Mesoderm
Ont Id: UBERON_0000926
Marker Expressed
MIXL1
Yes
Ectoderm
Ont Id: UBERON_0000924
In vitro directed differentiation
Marker Expressed
Pax6
Yes

Microbiology / Virus Screening

Mycoplasma Negative

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
46,XX
Passage number: P7
Karyotyping method: G-Banding

Other Genotyping (Cell Line)