LQT1-1781G/A hiPSC, LUMC0021iKCNQ-30

General

Cell Line

hPSCreg name LUMCi039-A
Cite as:
LUMCi039-A (RRID:CVCL_A7QT)
Alternative name(s)
LQT1-1781G/A hiPSC, LUMC0021iKCNQ-30
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines
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(UTA.00102.LQT1)
Donor's gene variants:
KCNQ1 – potassium voltage-gated channel subfamily Q member 1
Donor diseases:
Long QT Syndrome 1
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NUIGi020-A
(LQT019C1)
Donor diseases:
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NUIGi020-B
(LQT019C4)
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(LQT019Cx)
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HDZi001-A
(hiPSC NP0039)
Donor's gene variants:
TMEM43
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arrhythmogenic right ventricular dysplasia 5
LUMCi040-A
(LUMC0053iSCN01B)
Donor diseases:
Brugada syndrome
Last update 15th December 2021
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Provider

Generator Leiden University Medical Center (LUMC)
Owner Leiden University Medical Center (LUMC)
Distributors
Derivation country Netherlands

External Databases

BioSamples SAMEA8307098
Cellosaurus CVCL_A7QT
Wikidata Q107115879

General Information

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

Donor Information

General Donor Information

Sex female

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
OMIM#192500
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • Romano-Ward Syndrome
  • Long QT Syndrome 1
  • LQT1
Genetic variants
KCNQ1 (target)
Chromosome 11: 2,444,684-2,849,105
Heterozygous
KCNQ1 c.1781G>A

Karyotyping (Donor)

Has the donor karyotype been analysed?
Unknown

Other Genotyping (Donor)

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

External Databases (Donor)

BioSamples SAMEA8307101

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? Yes
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 agreed to be re-contacted? 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? 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? Yes
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
Does consent expressly permit collection of genetic information? Yes
Does consent expressly permit storage of genetic information? Yes
Does consent prevent dissemination of genetic information? No
Has the donor been informed that their donated biosample or derived cells may be tested for the presence of microbiological agents / pathogens? No
Has the donor consented to receive information discovered during use of donated embryo/tissue that has significant health implications for the donor? 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? Yes
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? Yes
Please describe how access is provided: through the responsible physician at LUMC
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: through the responsible physician at LUMC
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? Leiden University Medical Centre ethics committee
Approval number P 13.080
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? Leiden University Medical Centre ethics committee
Approval number P 13.080
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
Is there an MTA available for the cell line? No
For generation of the cell line, who was the supplier of any recombined DNA vectors or commercial kits used? M. Ohtaka, K. Nishimura, and M. Nakanishi (National Institute of Advanced Industrial Science and Technology, Japan)
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
Dermal fibroblasts are the major cell type in dermis and are commonly accepted as terminally differentiated cells.
Source cell origin
An organ that constitutes the external surface of the body. It consists of the epidermis, dermis, and skin appendages.
Synonyms
  • Skin
  • Human Skin
  • SKIN
  • Integument
  • Skin, total
  • Skin, NOS
  • Skin structure (body structure)
  • entire skin
  • skin of body
  • skin organ
show more synonyms

Reprogramming method

Vector type Non-integrating
Vector Sendai virus
Is reprogramming vector detectable?
No
Methods used
Immunostaining, RT-PCR

Vector free reprogramming

Other

Selection criteria for clones Morphology and proliferation, pluripotent
Derived under xeno-free conditions
No
Derived under GMP?
No
Available as clinical grade?
No

Culture Conditions

Surface coating Gelatin
Feeder cells Mouse embryonic feeder cells
Passage method Mechanically
Medium Other medium:
Base medium: DMEM-F12
Main protein source: Knock-out serum replacement
Serum concentration: 20 %
Has Rock inhibitor (Y27632) been used at passage previously with this cell line?
Yes
Has Rock inhibitor (Y27632) been used at cryo previously with this cell line?
Yes
Has Rock inhibitor (Y27632) been used at thaw previously with this cell line?
Yes

Characterisation

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR Flow Cytometry Enzymatic Assay Expression Profiles
POU5F1 (OCT-4)
Yes
TRA 1-81
Yes
NANOG
Yes
SSEA-4
Yes
Score:
Marker Present Absent
mCpG
OCT4
Pluripotency Score Novelty Score
32.34 1.38
Report
Pluritest.pdf
Pluritest output
Morphology pictures
Morphology_colony.pdf
hiPSC colony on MEFs - bright field
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro spontaneous differentiation
Marker Expressed
AFP
Yes
Morphology
AFP - endoderm.pdf
AFP IF staining
Mesoderm
Ont Id: UBERON_0000926
In vitro spontaneous differentiation
Marker Expressed
CD31
Yes
Morphology
CD31 - mesoderm.pdf
CD31 IF staining
Ectoderm
Ont Id: UBERON_0000924
In vitro spontaneous differentiation
Marker Expressed
Beta 3 Tubulin
Yes
Morphology
TUBB3 - ectoderm.pdf
TUBB3 IF staining

Microbiology / Virus Screening

Mycoplasma Negative

Genotyping

Karyotyping (Cell Line)

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

Other Genotyping (Cell Line)