0AS1

General#

Cell Line

hPSCreg Name USFi002-A
Alternative name(s)
0AS1
Cell line type Human induced pluripotent stem cell (hiPSC)
Last update 9th April 2021
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Provider

Generator University of South Florida (USF)
Derivation country United States

External Databases

BioSamples SAMEA8445429
CLO CLO_0103275

General Information

* Is the cell line readily obtainable for third parties?
Yes
Research: allowed
Clinical: not allowed
Commercial: not allowed

Donor Information#

General Donor Information

Sex male
Ethnicity African American

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
Dilated Cardiomyopathy (primary disease)
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • Congestive Cardiomyopathy
  • Dilated Cardiomyopathy
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.
Disease associated phenotypes
  • LVEF 20-25% with dilation and hypertrophy
  • Severe LV dilation and hypokinesis
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)

Has the donor karyotype been analysed?
Yes
46 XY
Karyotyping method: Spectral karyotyping

Other Genotyping (Donor)

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

External Databases (Donor)

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

Source cell line name 0AS1
Source cell type
Peripheral Blood Mononuclear Cell
A peripheral blood cell with a single nucleus. This category includes lymphocytes and monocytes.
Synonyms
  • PERIPHERAL BLOOD MONONUCLEAR CELL
  • Peripheral Blood Mononuclear Cell
  • Peripheral Blood Mononuclear cells
  • PBMC
show more synonyms
Source cell origin
Blood
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
show more synonyms

Reprogramming method

Vector type Non-integrating
Vector Sendai virus
Genes
Is reprogramming vector detectable?
No
Methods used
RT-PCR

Vector free reprogramming

Other

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
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 FACS Enzymatic Assay Expression Profiles
POU5F1 (OCT-4)
Yes
SOX2
Yes
NANOG
Yes
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro directed differentiation
Marker Expressed
SOX17
Yes
Morphology
SOX17 DAPI 10X
Mesoderm
Ont Id: UBERON_0000926
In vitro directed differentiation
Marker Expressed
SMA
Unknown
Morphology
Ectoderm
Ont Id: UBERON_0000924
In vitro directed differentiation
Marker Expressed
PAX6
Unknown
Morphology
DAPI PAX6 10X

Microbiology / Virus Screening

Mycoplasma Negative

Genotyping#

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
46 XY
Passage number: 24
Karyotyping method: Spectral karyotyping

Other Genotyping (Cell Line)

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