3026, 3026 (GBA N370S, heterozygous)

General

Cell Line

hPSCreg name CBIGi003-A
Cite as:
CBIGi003-A (RRID:CVCL_C0K8)
Alternative name(s)
3026, 3026 (GBA N370S, heterozygous)
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines
CBIGi003-A-1
(3026-iso, GBA N370S-correction/3026)
Donor diseases:
Parkinson Disease
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-4
(AST22-2KO-6, AST23_SNCAKO Clone 6, AST22_SNCAKO Clone 6, AST23-2KO-6)
Donor's gene variants:
SNCA, SNCA, SNCA, SNCA
Donor diseases:
Parkinson disease
MPIi003-A-1
(IM2GC, L2-2GC)
Donor diseases:
obsolete_Parkinson's disease
EDi001-B-1
(AST18-7A)
Donor's gene variants:
SNCA
Donor diseases:
Parkinson disease
EDi001-B-2
(AST18-7B)
Donor's gene variants:
SNCA
Donor diseases:
Parkinson disease
EDi001-B-3
(AST18-5D)
Donor's gene variants:
SNCA
Donor diseases:
Parkinson disease
EDi001-B-4
(AST18-6A)
Donor's gene variants:
SNCA
Donor diseases:
Parkinson disease
EDi001-A-5
(AST23-2KO-II8B)
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
LCSBi009-A-1
(RHOT1_R272Q_clone18_IsogenicControl)
Donor diseases:
Parkinson Disease
LCSBi010-A-1
(RHOT1_R450C_clone6_IsogenicControl)
Donor diseases:
Parkinson Disease
LCSBi010-A-2
(RHOT1_R450C_clone10_IsogenicControl)
Donor diseases:
Parkinson Disease
LCSBi012-A-1
(RHOT1_T610A_clone62.19.37_IsogenicControl)
Donor diseases:
Parkinson Disease
LCSBi008-A-1
(delP GC13, DJ-1-delP GC13)
Donor diseases:
Parkinson Disease
PNUSCRi004-A
(GBA PD iPSC8)
Donor diseases:
Parkinson Disease
JUCGRMi002-A
(DupA5)
Donor diseases:
Parkinson Disease
JUCGRMi002-B
(DupA13)
Donor diseases:
Parkinson Disease
JUCGRMi002-C
(DupA18)
Donor diseases:
Parkinson Disease
JUCGRMi003-A
(PH13)
Donor diseases:
Parkinson Disease
SUSMi005-A-1
(SNCA3X 0KO C1, SNCA3X 0KO C2)
Donor diseases:
obsolete_Parkinson's disease
SUSMi005-A-2
(SNCA3X 1KO C2, SNCA3X 1KO C1)
Donor diseases:
obsolete_Parkinson's disease
SUSMi005-A-3
(SNCA3X 2KO C1, SNCA3X 2KO C2)
Donor diseases:
obsolete_Parkinson's disease
SUSMi005-A-4
(SNCA3X 3KO C1, SNCA3X 3KO C2)
Donor diseases:
obsolete_Parkinson's disease
SUSMi005-A-5
(SNCA3X 4KO C1, SNCA3X 4KO C2)
Donor diseases:
obsolete_Parkinson's disease
LNDWCHi001-A
(LNDWCH-iPS-PD-PLA2G6–001)
Donor diseases:
Parkinson Disease
ICGi015-B-1
(m6.7pCyto-17)
Donor diseases:
Parkinson Disease
ICGi015-B-2
(m6.7pCyto-21)
Donor diseases:
Parkinson Disease
ICGi015-B-3
(m6.7pCyto-24)
Donor diseases:
Parkinson Disease
CBIGi002-A
(2890 (GBA W378G, heterozygous), 2890)
Donor's gene variants:
GBA, GBA
Donor diseases:
Parkinson Disease
ICGi034-A-1
(PD30-XBP-RFP-6, PD30-4-7-XBP-RFP-6)
Donor diseases:
obsolete_Parkinson's disease
ICGi034-A-2
(PD30-4-7-XBP-RFP-51, PD30-XBP-RFP-51)
Donor diseases:
obsolete_Parkinson's disease
LCSBi011-A-1
(RHOT1_T351A_clone25.2_IsogenicControl)
Donor diseases:
Parkinson Disease
PNUSCRi001-A
(GBA PD iPSC7)
Donor's gene variants:
GBA
Donor diseases:
Parkinson Disease
PNUSCRi002-A
(GBA PD iPSC9)
Donor's gene variants:
GBA
Donor diseases:
Parkinson Disease
ICGi042-A
(PD12-4Lm)
Donor's gene variants:
LRRK2, PINK1
Donor diseases:
Parkinson Disease
ICGi042-B
(PD12-5Lm)
Donor's gene variants:
LRRK2, PINK1
Donor diseases:
Parkinson Disease
ICGi042-C
(PD12-6Lm)
Donor's gene variants:
LRRK2, PINK1
Donor diseases:
Parkinson Disease
ICGi043-A
(LR-21)
Donor's gene variants:
LRRK2
Donor diseases:
Parkinson Disease
ICGi043-B
(LR-2)
Donor's gene variants:
LRRK2
Donor diseases:
Parkinson Disease
ICGi043-C
(LR-15)
Donor's gene variants:
LRRK2
Donor diseases:
Parkinson Disease
ICGi034-B
(PD30-5-16)
Donor diseases:
obsolete_Parkinson's disease
ICGi034-C
(PD30-5-27)
Donor diseases:
obsolete_Parkinson's disease
JUCGRMi001-A
(VPS35A4)
Donor diseases:
Parkinson Disease
JUCGRMi001-B
(VPS35A5)
Donor diseases:
Parkinson Disease
Last update 14th April 2022
Notes Heterozygous GBA N370S (also known as p.N409S) mutation was confirmed by sequencing after reprogramming.
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Provider

Generator Clinical Biospecimen Imaging and Genetic (C-BIG) Repository (CBIG)

External Databases

BioSamples SAMEA13204587
Cellosaurus CVCL_C0K8
Wikidata Q112929372

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) 65-69

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
Synonyms
  • Parkinson Disease
  • Parkinson's disease
  • Parkinson's Disease
Genetic variants
1q21
NM_000157.4:c.1226A>G+/-
NP_000148.2:p.Asn409Ser+/- (also known as p.Asn370Ser)
Heterozygous

External Databases (Donor)

BioSamples SAMEA13204588

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
Please 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
Please provide the contact information 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
A peripheral blood cell with a single nucleus. This category includes lymphocytes and monocytes.
Synonyms
  • PERIPHERAL BLOOD MONONUCLEAR CELL
  • Peripheral Blood Mononuclear Cell
  • PBMC
Age of donor (at collection) 65-69

Reprogramming method

Vector type Non-integrating
Vector Episomal
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 Flow Cytometry 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
In vitro directed differentiation
Marker Expressed
MIXL1
Yes
Ectoderm
Ont Id: UBERON_0000924
In vitro directed differentiation
Marker Expressed
Pax6
Yes

Genotyping

Karyotyping (Cell Line)

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

Other Genotyping (Cell Line)