BUCREMi002-A

iPSC-S6D63H-3hom

General

Cell Line

hPSCreg name BUCREMi002-A
Cite as:
BUCREMi002-A (RRID:CVCL_YE46)
Alternative name(s)
iPSC-S6D63H-3hom
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines
Last update 30th June 2022
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Provider

Generator Boston University (BUCREM)
Derivation country United States

External Databases

BioSamples SAMEA6324161
Cellosaurus CVCL_YE46
Wikidata Q93433173

General Information

Publications
* 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 unknown
Age of donor (at collection) fetal
Ethnicity European

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
SIRT6
The donor is a carrier of a disease-associated mutation and affected.
Stage
Perinatal lethality
Genetic variants
SIRT6 (target)
19p13.3
D63H
Homozygous
PMID: 29555651
WES identifies the homozygous NM_016539.3 c.187G > C; p.(Asp63His) SIRT6 mutation
Disease associated phenotypes
  • Perinatal lethality
Family history Four cases of perinatal loss
Is the medical history available upon request? See associated publication
Is clinical information available? See associated publication

Karyotyping (Donor)

Has the donor karyotype been analysed?
Unknown

Other Genotyping (Donor)

Is there genome-wide genotyping or functional data available?
Yes

External Databases (Donor)

BioSamples SAMEA6324162

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: Merel C. van Maarle, Department of Clinical Genetics, Academic Medical Centre (AMC), Amsterdam NL-1105 AZ, the Netherlands
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 Merel C. van Maarle, Department of Clinical Genetics, Academic Medical Centre (AMC), Amsterdam NL-1105 AZ, the Netherlands
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? Unknown
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 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? No
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? No
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 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? 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: via family doctor
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? Academic Medical Centre (AMC), Netherlands Institutional Review Board
Approval number Available upon request
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? Academic Medical Centre (AMC), Netherlands Institutional Review Board
Approval number Available upon request
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? Life Technologies
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 cell of fetal origin obtained in an amniotic fluid specimen.
Synonyms
  • amniotic cell
Age of donor (at collection) fetal
Collected in 2018

Reprogramming method

Vector type Non-integrating
Vector Sendai virus
Is reprogramming vector detectable?
Unknown

Vector free reprogramming

Other

Selection criteria for clones morphology
Derived under xeno-free conditions
Yes
Derived under GMP?
No
Available as clinical grade?
No

Culture Conditions

Surface coating Matrigel/Geltrex
Feeder cells
No
Passage method Enzymatically
ReLSr
O2 Concentration 20 %
CO2 Concentration 5 %
Medium mTeSR™ 1
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
SSEA-4
Yes
TRA 1-81
Yes
Differentiation Potency
Cardiac Muscle Cell
Ont Id: CL_0000746
Neuron
Ont Id: CL_0000540

Microbiology / Virus Screening

Mycoplasma Negative

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Unknown

Other Genotyping (Cell Line)