ICGi030-A

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	ICGi020-A (ATP7bIL23f) Donor's gene variants: ATP7B Donor diseases: Wilson disease ICGi020-B (ATP7bIL24f) Donor's gene variants: ATP7B Donor diseases: Wilson disease ZZUNEUi004-A Donor diseases: Wilson disease ZZUNEUi005-A Donor diseases: Wilson disease SMBCi013-A (WD-iPSC) Donor diseases: Hepatolenticular Degeneration ZZUNEUi003-A Donor diseases: Wilson disease PUMCHi005-A Donor diseases: Transthyretin cardiac amyloidosis PNUSCRi003-A (GBA Gaucher iPSC1) Donor diseases: Gaucher disease AHQUi001-A (IPS35-2) Donor's gene variants: LPL Donor diseases: NON RARE IN EUROPE: Hyperlipoproteinemia type 4 SDQLCHi030-A Donor's gene variants: HPRT1 Donor diseases: Lesch-Nyhan Syndrome SHCDNi007-A Donor diseases: Pyruvate Carboxylase Deficiency SCVIi109-A (SCVI3020) Donor diseases: familial hypercholesterolemia CMCi006-A (CMC-Fb-001) Donor diseases: Fabry Disease NJDTHi001-A Donor diseases: Danon disease SCVIi091-A (SCVI2617) Donor diseases: transthyretin amyloidosis SYSUTFi001-A Donor diseases: Hepatocellular Carcinoma
Last update	30th September 2021
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Provider
Generator	Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (ICG) Contact: Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (ICG)
Owner	Research Institute of Medical Genetics, TNMRC (IMGT)
Distributors	Research Institute of Medical Genetics, TNMRC (IMGT)
Derivation country	Russia
External Databases
BioSamples	SAMEA9273287
Cellosaurus	CVCL_A0VT
Wikidata	Q108820526
General Information
Publications	Zhigalina DI et al. Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene. Stem cell research. 2021 Dec;57:102556.
* 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.

Wilson disease

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

Synonyms

Genetic variants

ATP7B (target)

Chromosome location

13q14.3

Nucleotide sequence variant in HGVS format

NM_000053.3:c.3207C>A

Protein sequence variant in HGVS format

p.(His1069Gln)

Is the variant homozygous or heterozygous?

Heterozygous

ClinVar

VCV000003848.28

dbSNP

rs76151636

ATP7B (target)

Chromosome location

13q14.3

Nucleotide sequence variant in HGVS format

NM_000053.4:c.3036dup

Protein sequence variant in HGVS format

p.(Lys1013fs)

Is the variant homozygous or heterozygous?

Heterozygous

ClinVar

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
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	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 PBMC
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 portion of blood vertebrate blood show more synonyms show less synonyms
Age of donor (at collection)	5-9
Collected in	2019
Passage number reprogrammed	1
Reprogramming method
Vector type	Non-integrating
Vector	Episomal
Genes	POU5F1 SOX2 KLF4 MYC LIN28 Trp53
Is reprogramming vector detectable?	No
Methods used	PCR, RT-PCR
Vector map	Plasmid.png
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

Supplement	Amount	Unit
NEAA	0.1	mM
GlutaMAX-I Supplement	2	mM
β-mercaptoethanol	0.1	mM
rhFGF basic	10	ng/ml
Penicillin-Streptomycin	100	U/ml

Protocol_of_culturing_IPSCs.pdf

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	Flow Cytometry	Enzymatic Assay	Expression Profiles
Alkaline Phosphatase	Yes				–
NANOG	Yes	–
SSEA-4	Yes	–
SOX2	Yes	–
TRA 1-60	Yes	–

EpiPluriScore

Score:

Marker	Present	Absent
mCpG
OCT4

Morphology

Morphology pictures

Morphology.tif

Differentiation Potency

Endoderm

Endoderm
Ont Id: UBERON_0000925

In vitro spontaneous differentiation

Marker	Expressed
AFP	Yes

Morphology

Mesoderm

Mesoderm
Ont Id: UBERON_0000926

In vitro spontaneous differentiation

Marker	Expressed
Collagen I	Yes

Morphology

Ectoderm

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 mFISH.JPG Passage number: 18 Karyotyping method: Spectral karyotyping
Other Genotyping (Cell Line)

HF2

General

Cell Line

Provider

External Databases

General Information

Donor Information

General Donor Information

Phenotype and Disease related information (Donor)

ATP7B (target)

ATP7B (target)

Karyotyping (Donor)

Other Genotyping (Donor)

External Databases (Donor)

Ethics

Does consent permit research by

hIPSC Derivation

General

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)