TSM(exon10+16)V97

General

Cell Line

hPSCreg name UCLi003-A
Cite as:
UCLi003-A (RRID:CVCL_9S56)
Alternative name(s)
TSM(exon10+16)V97
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines
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UCLi004-B
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LUBi001-B
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UKBi007-A
(LB-33-5, iLB-MJD3-33f-r5)
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UGOTSAi004-A
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UGOTSAi004-B
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CSSi002-A
(HD8yrs)
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Juvenile Huntington disease
SHEHDNi002-A
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Parkinson Disease
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EDi001-B
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SNCA
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Parkinson disease
EDi001-A
(AST22, AST23, SAMEA3319992)
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SNCA, SNCA, SNCA
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UKBi001-B
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ATXN3
Donor diseases:
Machado-Joseph disease
CSSi001-A
(Joub03cl2, COR419)
Donor diseases:
Joubert syndrome
UKBi003-A
(iLB-MJD1-32m-r9, LB-32-r9)
Donor's gene variants:
ATXN3, ATXN3
Donor diseases:
Machado-Joseph disease
UKBi008-A
(iLB-MJD4-34m-r1, LB-34-1)
Donor's gene variants:
ATXN3, ATXN3
Donor diseases:
Machado-Joseph disease
Last update 19th July 2019
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Provider

Generator University College London (UCL)
Distributors

External Databases

BioSamples SAMEA3174519
Cellosaurus CVCL_9S56
Wikidata Q54989668

General Information

Publications
Projects
* Is the cell line readily obtainable for third parties?
Yes
Research use: allowed
Clinical use: allowed
Commercial use: allowed

Donor Information

General Donor Information

Sex female
Ethnicity Caucasian

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
The donor is a carrier of a disease-associated mutation and affected.
Stage
Pre-symptomatic at time of biopsy
Synonyms
  • FTD
Genetic variants
MAPT (target)
17q21.31
NM_005910.5(MAPT):c.915+16C>T
VCV000098222.1
MAPT: IVS10, C-T, +16
Is the medical history available upon request? No
Is clinical information available? No

Karyotyping (Donor)

Has the donor karyotype been analysed?
Yes

Other Genotyping (Donor)

Is there genome-wide genotyping or functional data available?
No

Donor Relations

Other cell lines of this donor

External Databases (Donor)

BioSamples SAMEA3174526

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? Yes
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 Selina Wray
Is there other documentation provided to the donor for consenting purposes? Yes
Confirm that consent was obtained by a qualified professional Yes
Has the donor agreed to be re-contacted? No
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? 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 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
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
How may genetic information associated with the cell line be accessed? Open 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
Does consent permit access to any other source of information about the clinical treatment or health of 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? Institute of Neurology Joint Research Ethics Committee
Approval number 09/H0716/64
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? Institute of Neurology Joint Research Ethics Committee
Approval number 09/H0716/64
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
Any skin fibroblast that is part of some dermis.
Source cell origin
Any portion of the organ that covers that body and consists of a layer of epidermis and a layer of dermis.
Synonyms
  • portion of skin
  • region of skin
  • skin
  • skin region
  • skin zone
show more synonyms

Reprogramming method

Vector type Integrating
Vector Virus (Retrovirus)
Genes
Is the used vector excisable?
Unknown
Absence of reprogramming vector(s)?
Unknown
Reprogramming vectors silenced?

Vector free reprogramming

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
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-4
Yes
TRA 1-60
Yes
SSEA-1
No
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro spontaneous differentiation
Marker Expressed
SOX17
Yes
FOXA2
Yes
GSC
Yes
GATA6
Yes
CXCR4
Yes
Mesoderm
Ont Id: UBERON_0000926
In vitro spontaneous differentiation
Marker Expressed
HAND1
Yes
VIMENTIN
Yes
BMP4
Yes
GATA4
Yes
PITX1
Yes
DECORIN
Yes
PECAM1 (CD31)
Yes
PDGFRA
Yes
Ectoderm
Ont Id: UBERON_0000924
In vitro spontaneous differentiation
Marker Expressed
PAX6
Yes
Sox1
Yes
BTUBULIN
Yes
NEUROD1
Yes
HES5
Yes
FOXG1
Yes

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: 40

Genotyping

Karyotyping (Cell Line)

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

Other Genotyping (Cell Line)