hiPSC-FD

General

Cell Line

hPSCreg name UKJi003-A
Cite as:
UKJi003-A
Alternative name(s)
hiPSC-FD
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines No similar lines found.
Last update 14th June 2024
Notes Peripheral blood mononuclear cells (PBMCs) from a patient with mutations in alpha-Galactosidase (Hemizygot IVS6-10 G>A), causes enzyme-deficiency, were used to create hiPSCs. Clinically, the patient has been diagnosed with the classical Fabry disease phenotype.
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Provider

Generator Universitätsklinikum Jena (UKJ), Klinik für Innere Medizin I (KIM I), Dr. M. Bekhite ELsaied (UKJ)
Owner Universitätsklinikum Jena (UKJ), Klinik für Innere Medizin I (KIM I), Dr. M. Bekhite ELsaied (UKJ)
Distributors
Derivation country Germany

External Databases

BioSamples SAMEA115728248

General Information

* Is the cell line readily obtainable for third parties?
Yes
Cell line can only be used in: Permitted the hiPSC-FD to be used exclusively for research purposes following the signing of a collaboration agreement.
Research use: allowed
Clinical use: not allowed
Commercial use: not allowed

Donor Information

General Donor Information

Sex male
Age of donor (at collection) 45-49
Ethnicity Age: 49 year-old, Ethnicity: Caucasian

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
Fabry disease (FD) is a rare X-linked glycosphingolipidosis resulting from deficient α-galactosidase A (AGAL) activity, caused by pathogenic mutations in the GLA gene leading to progressive accumulation of globotriaosylceramide (Gb3) in tissues and organs. Even though nearly all organs can show symptomatic or asymptomatic involvement to a certain degree, cardiac involvement is the driving factor that leads to fatal complications and reduced life expectancy.
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • Fabry Disease
  • Alpha-Galactosidase A Deficiency
  • Angiokeratoma Corporis Diffusum
  • Fabry's Disease
show more synonyms
Genetic variants
Family history No
Is the medical history available upon request? No
Is clinical information available? No

Karyotyping (Donor)

Has the donor karyotype been analysed?
No

Other Genotyping (Donor)

Is there genome-wide genotyping or functional data available?
Yes
Multiplex ligation-dependent probe amplification (MLPA)
Mutation hemizygot IVS6-10 G>A

External Databases (Donor)

BioSamples SAMEA115728249

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
Please indicate whether the data associated with the donated material has been pseudonymised or anonymised. pseudonymised
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 Creation of patient-specific iPSC-derived cardiomyocytes (iPSC-CMs)
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 the DONATED BIOSAMPLE from being made available to researchers anywhere in the world? 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? No
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? Yes
Has the donor consented to receive information discovered during use of donated embryo/tissue that has significant health implications for the donor? No
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? No
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? University of Jena Ethics Committee
Approval number 2020-1833/1-Material
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? No
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 line name Peripheral Blood Mononuclear Cell
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
Age of donor (at collection) 45-49
Collected in 2020
Source cell line vendor Klinik für Innere Medizin I, Universitätsklinikum Jena
Passage number reprogrammed 0

Reprogramming method

Vector type Non-integrating
Vector Sendai virus
Genes
Is reprogramming vector detectable?
No
Methods used
PCR
Notes on reprogramming vector detection Confirmation of the absence of the Sendai-Virus in iPSC-FD cell line
Files and images showing reprogramming vector expressed or silenced

Vector free reprogramming

Type of used vector free reprogramming factor(s)
None

Other

Selection criteria for clones IPSC clones were manually picked and cultured on Matrigel (Corning) coated plate using mTeSR1 (Stem Cell) at 37 °C, 5% CO 2. We pick a single colony from passage 1 and subcloning for 10 passages and then testing for virus free iPSC.
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
ReLeSR™ is an enzyme-free reagent for dissociation and passaging of human embryonic stem (ES) or induced pluripotent stem (iPS) cells
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?
No
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
TRA 1-60
Yes
SOX2
Yes
SSEA-4
Yes
Morphology pictures
Pluripotency was verified by staining the colony with alkaline phosphatase and examining how the cells differentiated into three germ layers by forming ectoderm, mesoderm, and endoderm structures in sections of embryoid bodies stained with hematoxylin and eosin.
Method documentation
iPSC-FD embryoid bodies section.png
Section of embryoid bodies stained with hematoxylin and eosin
Alkaline phosphatase iPSC-FD.png
Alkaline phosphatase (ALP) staining
Differentiation Potency
Hepatocyte
Ont Id: CL_0000182
In vitro spontaneous differentiation
Marker Expressed
α-fetoprotein
Yes
Morphology
Cell Of Skeletal Muscle
Ont Id: CL_0000188
In vitro spontaneous differentiation
Morphology
α-smooth muscle actin in iPSC-FD
Neuron
Ont Id: CL_0000540
In vitro spontaneous differentiation
Morphology
ß-III tubulin accounted for ectoderm

Microbiology / Virus Screening

HIV 1 Negative
Hepatitis B Negative
Hepatitis C Negative
Mycoplasma Negative

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
Karyotyping shows the genomic integrity in iPSC after reprogramming
Passage number: 16
Karyotyping method: G-Banding

Other Genotyping (Cell Line)

Is there genome-wide genotyping or functional data available?
Yes
Sanger sequencing analysis
Mutation hemizygot IVS6-10 G>A