0AS1
USFi002-A
General
Cell Line |
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hPSCreg name | USFi002-A |
Cite as: | USFi002-A (RRID:CVCL_A6XE) |
Alternative name(s) |
0AS1
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Cell line type | Human induced pluripotent stem cell (hiPSC) |
Similar lines |
FAMRCi011-B (ARVC51b) Donor's gene variants: FLNC Donor diseases: Inherited arrhythmogenic cardiomyopathy CBRCULi016-A-1 (SCN5A p.R219H-14C-ISO) Donor's gene variants: SCN5A Donor diseases: dilated cardiomyopathy |
Last update | 14th May 2021 |
User feedback | |
Provider |
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Generator | University of South Florida (USF) |
Derivation country | United States |
External Databases |
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BioSamples | SAMEA8445429 |
Cellosaurus | CVCL_A6XE |
Wikidata | Q107117354 |
General Information |
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Publications |
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* Is the cell line readily obtainable for third parties? |
Yes Research use: allowed
Clinical use: not allowed
Commercial use: not allowed
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Donor Information
General Donor Information |
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Sex | male |
Ethnicity | African American |
Phenotype and Disease related information (Donor) |
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Diseases | A disease was diagnosed.
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
Genetic variants
Filamin C (target)7q32.1
NM_001458.5(FLNC):c.6345_6352del (p.Asp2116fs)
NP_001449.3:p.Asp2116fs
Heterozygous
SCV001405689
FLNC, Exon 38, c.6345_6352del (p.Asp2116Argfs*37), heterozygous, PATHOGENIC
This sequence change creates a premature translational stop signal (p.Asp2116Argfs*37) in the FLNC gene. It is expected to result in an absent or disrupted protein product.
This variant is not present in population databases (ExAC no frequency).
This variant has not been reported in the literature in individuals with FLNC-related conditions.
Loss-of-function variants in FLNC are known to be pathogenic (PMID: 27908349).
For these reasons, this variant has been classified as Pathogenic.
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Disease associated phenotypes |
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Family history | Aggressive dilated cardiomyopathy of uncertain etiology but with suspicious family history for inheritance. The possibilities include contractile protein mutation, amyloidosis, sarcoidosis, viral, or other genetic mutation affecting cardiac function. |
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? |
Yes
46 XY
Karyotyping method:
Spectral karyotyping
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Other Genotyping (Donor) |
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Is there genome-wide genotyping or functional data available? |
Yes
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External Databases (Donor) |
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BioSamples | SAMEA8445430 |
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? | 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 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 |
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? | 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? | 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 |
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? | USF IRB |
Approval number | Pro00033948 |
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? | Thermo Fisher |
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 line name |
0AS1 Derived from same source line (potentially other lot and donor, see below):
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Source cell type |
Synonyms
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Source cell origin |
An organ that constitutes the external surface of the body. It consists of the epidermis, dermis, and skin appendages.
Synonyms
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Reprogramming method |
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Vector type | Non-integrating |
Vector | Sendai virus |
Genes | |
Is reprogramming vector detectable? |
No |
Methods used |
RT-PCR
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Vector free reprogramming |
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Other |
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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 |
Enzyme-free cell dissociation
EDTA
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O2 Concentration | 20 % |
CO2 Concentration | 5 % |
Medium |
mTeSR™ 1
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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 |
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SOX2 |
Yes |
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NANOG |
Yes |
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Differentiation Potency
Microbiology / Virus Screening |
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Mycoplasma | Negative |
Genotyping
Karyotyping (Cell Line) |
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Has the cell line karyotype been analysed? |
Yes
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Other Genotyping (Cell Line) |
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Is there genome-wide genotyping or functional data available? |
Yes
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