IAIi003RSTS1-46-A

General

Cell Line

hPSCreg name IAIi003-A
Cite as:
IAIi003-A (RRID:CVCL_VM14)
Alternative name(s)
IAIi003RSTS1-46-A
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines
IAIi002-A
(IAIi002RSTS1-34-A)
Donor's gene variants:
CREBBP
Donor diseases:
Rubinstein-Taybi syndrome
IAIi004-A
(IAIi004RSTS1-149-A)
Donor diseases:
Rubinstein-Taybi syndrome
IAIi001-A
(IAIi001RSTS2-65-A)
Donor diseases:
Rubinstein-Taybi syndrome
Last update 29th April 2022
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Provider

Generator Istituto Auxologico Italiano IRCCS (IAI)
Owner Istituto Auxologico Italiano IRCCS (IAI)
Distributors
Derivation country Italy

External Databases

BioSamples SAMEA4862112
Cellosaurus CVCL_VM14
Wikidata Q94311612

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 female
Age of donor (at collection) 10-14
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.
Synonyms
  • Broad thumb-hallux syndrome
  • Broad thumbs-halluces syndrome
Family history no
Is clinical information available? published by Bentivegna et al., 2006; Lopez-Atalaya et al., 2012; Spena et al., 2015

Karyotyping (Donor)

Has the donor karyotype been analysed?
Yes
46, XX
Karyotyping method: QFQ banding and a-CGH (Agilent 180 K)

Other Genotyping (Donor)

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

External Databases (Donor)

BioSamples SAMEA4862233

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. 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? Yes
Details on restriction to research project NEURONET JTC 2015_ CHROMATIN RELATED INTELLECTUAL DISABILITY SYNDROMES: MOLECULAR ETIOLOGY AND THERAPY
Does consent permit unforeseen future research, without further consent? No
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 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 CELLS DERIVED FROM THE DONATED BIOSAMPLE from being made available to researchers anywhere in the world? Yes

Does consent permit research by

an academic institution? Yes
a public organisation? Yes
a non-profit company? 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? Yes
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? Yes
Does consent permit access to medical records 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? Istituto Auxologico Italiano
Approval number Ethic Committee 2015_12_15_02
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? Istituto Auxologico Italiano
Approval number Ethic Committee 2015_12_15_02
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? Cyto Tune 2.0 Lifetech
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 nucleated precursor of an erythrocyte that lacks hematopoietic lineage markers.
Synonyms
  • normoblast
Source cell origin
A fluid that is composed of blood plasma and erythrocytes.
Age of donor (at collection) 10-14
Collected in 2016

Reprogramming method

Vector type Non-integrating
Vector Sendai virus
Is reprogramming vector detectable?
Unknown
Notes on reprogramming vector detection based on the number of passages the iPS line should be SeV free

Vector free reprogramming

Other

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

Culture Conditions

Surface coating Gelatin
Feeder cells Irradiated MEF
CO2 Concentration 5 %
Medium Other medium:
Base medium: HESC
Main protein source: Knock-out serum replacement
Serum concentration: 20 %
Has Rock inhibitor (Y27632) been used at passage previously with this cell line?
No
Has Rock inhibitor (Y27632) been used at cryo previously with this cell line?
No
Has Rock inhibitor (Y27632) been used at thaw previously with this cell line?
No

Characterisation

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

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
46, XX
Passage number: 6
Karyotyping method: QFQ Banding; a-CGH (Agilent 180 K)

Other Genotyping (Cell Line)

Is there genome-wide genotyping or functional data available?
Yes
Array CGH
No acquired CNVs found