USFi002-A

General#

Cell Line
hPSCreg Name	USFi002-A
Alternative name(s)	0AS1
Cell line type	Human induced pluripotent stem cell (hiPSC)
Last update	14th May 2021
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Provider
Generator	University of South Florida (USF)
Derivation country	United States
External Databases
BioSamples	SAMEA8445429
CLO	CLO_0103275
Cellosaurus	CVCL_A6XE
General Information
Publications	Argenziano MA et al. Generation of a heterozygous FLNC mutation-carrying human iPSC line, USFi002-A, for modeling dilated cardiomyopathy. Stem cell research. 2021 May;53:102394.
* 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)

Dilated Cardiomyopathy in the OLS

The donor is a carrier of a disease-associated mutation and affected.

Synonyms

Genetic variants

Filamin C (target)

Chromosome location

7q32.1

Nucleotide sequence variant in HGVS format

NM_001458.5(FLNC):c.6345_6352del (p.Asp2116fs)

Protein sequence variant in HGVS format

NP_001449.3:p.Asp2116fs

Is the variant homozygous or heterozygous?

Heterozygous

ClinVar

SCV001405689

Free text

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 Peripheral Blood Mononuclear Cell in the OLS 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 show less synonyms
Source cell origin	Blood Blood in the OLS 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 show less synonyms
Reprogramming method
Vector type	Non-integrating
Vector	Sendai virus
Genes	POU5F1 SOX2 KLF4 MYC
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 Expression

Marker	Expressed	Immunostaining	RT-PCR	FACS	Enzymatic Assay	Expression Profiles
POU5F1 (OCT-4)	Yes		–
SOX2	Yes
NANOG	Yes

Differentiation Potency

Endoderm

Endoderm
Ont Id: UBERON_0000925

In vitro directed differentiation

Marker	Expressed
SOX17	Yes

Morphology

SOX17 DAPI 10X

Mesoderm

Mesoderm
Ont Id: UBERON_0000926

In vitro directed differentiation

Marker	Expressed
SMA	Unknown

Morphology

Ectoderm

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 0AS1_55-02.kry_Kary_.png Passage number: 24 Karyotyping method: Spectral karyotyping
Other Genotyping (Cell Line)
Is there genome-wide genotyping or functional data available?	Yes

0AS1

General#

Cell Line

Provider

External Databases

General Information

Donor Information#

General Donor Information

Phenotype and Disease related information (Donor)

Dilated Cardiomyopathy (primary disease)

Filamin C (target)

Karyotyping (Donor)

Other Genotyping (Donor)

External Databases (Donor)

Ethics#

Does consent permit research by

hIPSC Derivation#

General

Peripheral Blood Mononuclear Cell

Blood

Reprogramming method

Vector free reprogramming

Other

Culture Conditions#

Characterisation#

Analysis of Undifferentiated Cells

Differentiation Potency

Microbiology / Virus Screening

Genotyping#

Karyotyping (Cell Line)

Other Genotyping (Cell Line)