DFNA58-ipsc-dup1-cl2
USPi006-A
General
Cell Line |
|
| hPSCreg name | USPi006-A |
| Cite as: | USPi006-A (RRID:CVCL_C9HQ) |
| Alternative name(s) |
DFNA58-ipsc-dup1-cl2
|
| Cell line type | Human induced pluripotent stem cell (hiPSC) |
| Similar lines |
USPi004-A (DFNA58-ipsc-con1-cl4) USPi005-A (DFNA58-ipsc-con2-cl1) ZJSHi001-A (ZJSHi-KCNB1) Donor's gene variants: KCNB1 Donor diseases: developmental and epileptic encephalopathy, 26 PFIZi023-A (B217c8) Donor's gene variants: GPR56, GPR56 Donor diseases: Bilateral Frontoparietal Polymicrogyria IMBAi017-A (B002-ARID1B#8, Pat.2 ARID1B+/- clone 2a (XX), Pat.2 ARID1B+/- clone 2b (XX)) Donor diseases: Coffin-Siris Syndrome |
| Last update | 29th March 2023 |
| User feedback | |
Provider |
|
| Generator | Universidade de São Paulo (USP) |
| Owner | Universidade de São Paulo - Faculdade de Medicina - Hospital das Clínicas - LIM32/Otorhinolaryngology Lab |
| Derivation country | Brazil |
External Databases |
|
| BioSamples | SAMEA112657231 |
| Cellosaurus | CVCL_C9HQ |
| Wikidata | Q123033762 |
General Information |
|
| Publications | |
| * Is the cell line readily obtainable for third parties? |
No |
Donor Information
General Donor Information |
|
| Sex | female |
Phenotype and Disease related information (Donor) |
|
| Diseases | A disease was diagnosed.
|
| Disease associated phenotypes |
|
| Family history | autosomal dominant, twenty affected members documented |
| Is the medical history available upon request? | yes |
| Is clinical information available? | yes |
Karyotyping (Donor) |
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| Has the donor karyotype been analysed? |
No
|
Other Genotyping (Donor) |
|
| Is there genome-wide genotyping or functional data available? |
Yes
Array CGH
apart from the DFNA58 duplication, no mutations found
STR Analysis
identity confirmed |
Donor Relations |
|
| All cell lines of this donor's relatives |
Has sister:
Has sister:
Has niece:
|
External Databases (Donor) |
|
| BioSamples | SAMEA112657231 |
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. | lezi.karina@gmail.com |
| 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 | Use of IPS cells to elucidate the pathophysiology of postlingual sensorineural hearing loss of genetic etiology. |
| 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 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? | No |
| 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? | Yes |
| 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? | 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: | Only Medical Records obtained in the present Hospital das Clínicas |
| 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: | lezi.karina@gmail.com |
| 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? | Comissão de Ética em Pesquisa do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo |
| Approval number | Número do Parecer: 2.622.256 |
| 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? | Comissão de Ética em Pesquisa do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo |
| Approval number | Número do Parecer: 2.622.256 |
| 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? | |
| 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 |
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| Source cell type |
A peripheral blood cell with a single nucleus. This category includes lymphocytes and monocytes.
Synonyms
|
| Source cell origin |
A liquid tissue; its major function is to transport oxygen throughout the body. It also supplies the tissues with nutrients, removes waste products, and contains various components of the immune system defending the body against infection. Several hormones also travel in the blood.
Synonyms
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Reprogramming method |
|
| Vector type | Non-integrating |
| Vector | Episomal |
| Is reprogramming vector detectable? |
No |
| Methods used |
PCR
|
| Files and images showing reprogramming vector expressed or silenced | |
Vector free reprogramming |
|
Other |
|
| Derived under xeno-free conditions |
No |
| Derived under GMP? |
No |
| Available as clinical grade? |
No |
Culture Conditions
| Medium |
Essential 8™
Supplements
|
Characterisation
Analysis of Undifferentiated Cells
| Marker | Expressed | Immunostaining | RT-PCR | Flow Cytometry | Enzymatic Assay | Expression Profiles |
Differentiation Potency
In vitro directed differentiation
| Marker | Expressed |
| SOX17 |
Yes |
| FOXA2 |
Yes |
In vitro directed differentiation
| Marker | Expressed |
| TBXT |
Yes |
| PAX3 |
Unknown |
Microbiology / Virus Screening |
|
| Mycoplasma | Negative |
Genotyping
Karyotyping (Cell Line) |
|
| Has the cell line karyotype been analysed? |
No
|
Other Genotyping (Cell Line) |
|
| Is there genome-wide genotyping or functional data available? |
Yes
Array CGH
apart from the DFNA58 duplcation, no mutation found |
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