PNUSCRi003-A

GBA Gaucher iPSC1

General

Cell Line

hPSCreg name PNUSCRi003-A
Cite as:
PNUSCRi003-A (RRID:CVCL_C7TV)
Alternative name(s)
GBA Gaucher iPSC1
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines
ESi004-A
([GD]FiPS-4F-21c)
Donor's gene variants:
GBA1
Donor diseases:
Gaucher disease
CMCi006-A
(CMC-Fb-001)
Donor diseases:
Fabry Disease
NJDTHi001-A
Donor diseases:
Danon 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
PCIi005-A
(PC137)
Donor diseases:
Danon disease
Last update 2nd January 2023
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Provider

Generator Pusan National University: Convergence Stem Cell Research Center (PNUSCR)
Owner Pusan National University: Convergence Stem Cell Research Center (PNUSCR)
Derivation country South Korea

External Databases

BioSamples SAMEA112283524
Cellosaurus CVCL_C7TV
Wikidata Q117704781

General Information

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

Donor Information

General Donor Information

Sex male
Age of donor (at collection) 40-44
Ethnicity South Korea

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
c.259>T,C887G>A (NM_000157.2) homo.
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • Glucocerebrosidase deficiency
  • Acid beta-glucosidase deficiency
Genetic variants
cytoband location:1q22
Disease associated phenotypes
  • Gaucher disease

Karyotyping (Donor)

Has the donor karyotype been analysed?
Unknown

Other Genotyping (Donor)

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

External Databases (Donor)

BioSamples SAMEA112283406

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: Jae-Hyeok Lee, Pusan National University Yangsan Hospital, Yangsan, Gyeongsangnam-do, Republic of Korea
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? No
Does consent permit unforeseen future research, without further consent? No
Does the consent permit uses of donated embryo/tissue or derived cell line intended for clinical treatment or human applications? 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
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
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? Pusan National University Hospital
Approval number 05-2021-009
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? 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) 40-44
Collected in 2022

Reprogramming method

Vector type Non-integrating
Vector Sendai virus
Is reprogramming vector detectable?
No
Methods used
PCR
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 Manually picked iPSC colonies post virus transfection. The cells have a compact and bright edges and passaged the cells using 0.5mM EDTA.
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
CO2 Concentration 5 %
Medium mTeSR™ 1
Has Rock inhibitor (Y27632) been used at passage previously with this cell line?
No
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
POU5F1 (OCT-4)
Yes
SOX2
Yes
NANOG
Yes
SSEA-4
Yes
TRA 1-81
Yes
Morphology pictures
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro spontaneous differentiation
Marker Expressed
SOX17
Yes
AFP
Yes
GATA4
Yes
Morphology
Mesoderm
Ont Id: UBERON_0000926
In vitro spontaneous differentiation
Marker Expressed
Brachyury
Yes
Hand1
Yes
Morphology
Ectoderm
Ont Id: UBERON_0000924
In vitro spontaneous differentiation
Marker Expressed
Nestin
Yes
SOX1
Yes
Morphology

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
46, XY
Passage number: 16
Karyotyping method: G-Banding

Other Genotyping (Cell Line)