DFNA58-ipsc-dup1-cl2

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
USPi007-A
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autosomal dominant nonsyndromic deafness 58
USPi004-A
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USPi005-A
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FJMUUHi001-A
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Last update 29th March 2023
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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.
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • DFNA58
  • autosomal dominant deafness 58
Genetic variants
2p14
GRCh37/hg19 2p14-13.3(chr2:68475209-68676657)x3
Heterozygous
VCV001184810.1
32337552
Disease associated phenotypes
  • postlingual progressive hearing loss
Family history autosomal dominant, twenty affected members documented
Is the medical history available upon request? yes
Is clinical information available? yes

Karyotyping (Donor)

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
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

Source cell type
A peripheral blood cell with a single nucleus. This category includes lymphocytes and monocytes.
Synonyms
  • PERIPHERAL BLOOD MONONUCLEAR CELL
  • Peripheral Blood Mononuclear Cell
  • PBMC
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
  • Reticuloendothelial System, Blood
  • Peripheral Blood
  • peripheral blood
  • blood
  • Blood
  • Whole Blood
  • BLOOD
  • portion of blood
  • vertebrate blood
show more synonyms

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
Normocin 100 µg/ml

Characterisation

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR Flow Cytometry Enzymatic Assay Expression Profiles
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro directed differentiation
Marker Expressed
SOX17
Yes
FOXA2
Yes
Mesoderm
Ont Id: UBERON_0000926
In vitro directed differentiation
Marker Expressed
TBXT
Yes
PAX3
Unknown
Ectoderm
Ont Id: UBERON_0000924
In vitro directed differentiation
Marker Expressed
PAX6
Yes
OTX2
Yes

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