HF2

General

Cell Line

hPSCreg name ICGi030-A
Cite as:
ICGi030-A (RRID:CVCL_A0VT)
Alternative name(s)
HF2
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines
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ATP7B
Donor diseases:
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ATP7B
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Wilson disease
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NON RARE IN EUROPE: Hyperlipoproteinemia type 4
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Last update 30th September 2021
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Provider

Generator Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (ICG)
Owner Research Institute of Medical Genetics, TNMRC (IMGT)
Distributors
Derivation country Russia

External Databases

BioSamples SAMEA9273287
Cellosaurus CVCL_A0VT
Wikidata Q108820526

General Information

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

N/A

Donor Information

General Donor Information

Sex male
Age of donor (at collection) 5-9
Ethnicity Caucasian

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • Hepatolenticular degeneration
Genetic variants
ATP7B (target)
13q14.3
NM_000053.3:c.3207C>A
p.(His1069Gln)
Heterozygous
VCV000003848.28
ATP7B (target)
13q14.3
NM_000053.4:c.3036dup
p.(Lys1013fs)
Heterozygous
RCV000587819.3
Disease associated phenotypes
  • The proband from the first pregnancy, proceeding with anemia, carriage of cytomegalovirus, candidal colpitis, chronic placental insufficiency, threat of pregnancy termination. Urgent labor at 41-42 weeks, the amniotic fluid is meconium. The condition is grave, according to Apgar 2 points, the skin is abundantly covered with meconium, 2-fold entanglement with the umbilical cord. The initial disease manifestations, with an allergic skin rash at 5 years. There was an increase in ALT 384 U/L, AST 169 U/L, Gamma-HT 110 U/L. There was a decrease in copper 5.82 μM / L (13.0-24.0) and ceruloplasmin 0.09 g / L (0.27-0.56) in the blood serum.

Karyotyping (Donor)

Has the donor karyotype been analysed?
Yes

Other Genotyping (Donor)

Is there genome-wide genotyping or functional data available?
No

External Databases (Donor)

BioSamples SAMEA9352687

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
Please provide contact information of the holder of the original Donor Information Sheet. Nikolay A. Skryabin, PhD, nukulay@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? Unknown
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. 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
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? Yes
Does consent expressly prevent financial gain from any use of the donated embryo/tissue, including any product made from it? Yes
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? Yes

Does consent permit research by

an academic institution? Yes
a public organisation? No
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
Does consent prevent dissemination of genetic information? No
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? 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? No
Does the consent permit the donor, upon withdrawal of consent, to stop delivery or use of information and data about the donor? No
Does consent permit access to medical records of the donor? Yes
Please describe how access is provided: Nikolay A. Skryabin, PhD, nukulay@gmail.com
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: Nikolay A. Skryabin, PhD, nukulay@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? Research Ethics Committee of the Research Institute of Medical Genetics of the Tomsk National Research Medical Center (Tomsk, Russia)
Approval number Protocol number 125/1 (22.10.2018)
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? Research Ethics Committee of the Research Institute of Medical Genetics of the Tomsk National Research Medical Center (Tomsk, Russia)
Approval number Protocol number 125/1 (22.10.2018)
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? Epi5™ Episomal iPSC Reprogramming Kit, Invitrogen™
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
Age of donor (at collection) 5-9
Collected in 2019
Passage number reprogrammed 1

Reprogramming method

Vector type Non-integrating
Vector Episomal
Genes
Is reprogramming vector detectable?
No
Methods used
PCR, RT-PCR
Vector map

Vector free reprogramming

Type of used vector free reprogramming factor(s)
None

Other

Selection criteria for clones Colonies of iPSCs were selected with the most pronounced iPSC-like morphology, optimal size, and a neat smooth edge.
Derived under xeno-free conditions
No
Derived under GMP?
No
Available as clinical grade?
No

Culture Conditions

Surface coating Gelatin
Feeder cells
Yes
Passage method Enzymatically
TrypLE
O2 Concentration 20 %
CO2 Concentration 5 %
Medium Other medium:
Base medium: DMEM/F-12, GlutaMAX Supple
Main protein source: Knock-out serum replacement
Serum concentration: 20 %
Supplements
NEAA 0.1 mM
GlutaMAX-I Supplement 2 mM
β-mercaptoethanol 0.1 mM
rhFGF basic 10 ng/ml
Penicillin-Streptomycin 100 U/ml
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
Alkaline Phosphatase
Yes
NANOG
Yes
SSEA-4
Yes
SOX2
Yes
TRA 1-60
Yes
Score:
Marker Present Absent
mCpG
OCT4
Morphology pictures
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro spontaneous differentiation
Marker Expressed
AFP
Yes
Morphology
Mesoderm
Ont Id: UBERON_0000926
In vitro spontaneous differentiation
Marker Expressed
Collagen I
Yes
Morphology
Ectoderm
Ont Id: UBERON_0000924
In vitro spontaneous differentiation
Marker Expressed
NEFH
Yes
Morphology

Microbiology / Virus Screening

Mycoplasma Negative

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
46, XY
Passage number: 18
Karyotyping method: Spectral karyotyping

Other Genotyping (Cell Line)