SDQLCHi030-A

The cell line is not validated yet.

General

Cell Line

hPSCreg name SDQLCHi030-A
Cite as:
SDQLCHi030-A (RRID:CVCL_A4XM)
Cell line type Human induced pluripotent stem cell (hiPSC)
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Danon disease
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Donor's gene variants:
LPL
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NON RARE IN EUROPE: Hyperlipoproteinemia type 4
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Last update 25th January 2024
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Provider

Generator Children’s Hospital affiliated to Shandong University (SDQLCH)
Owner Children’s Hospital affiliated to Shandong University (SDQLCH)
Derivation country China

External Databases

Cellosaurus CVCL_A4XM
Wikidata Q107116885
BioSamples SAMEA115039271

General Information

Publications
* Is the cell line readily obtainable for third parties?
No

Donor Information

General Donor Information

Sex male

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • Lesch-Nyhan Syndrome
Genetic variants
HPRT1 (target)
Xq26.2-q26.3
NM_000194.3:c.508C>T
NP_000185.1:p.Arg170*
hemizygous

Karyotyping (Donor)

Has the donor karyotype been analysed?
Yes

Other Genotyping (Donor)

Is there genome-wide genotyping or functional data available?
Yes

External Databases (Donor)

BioSamples SAMEA115039272

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. anonymised
Does consent explicitly allow the derivation of pluripotent stem cells? No
Does consent prevent CELLS DERIVED FROM THE DONATED BIOSAMPLE from being made available to researchers anywhere in the world? 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
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? Medical Ethics Committee of Children’s Hospital Affiliated to Shandong University
Approval number SDFE-IRB/T-2023074
For generation of the cell line, who was the supplier of any recombined DNA vectors or commercial kits used?

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

Reprogramming method

Vector type Non-integrating
Vector Episomal
Is reprogramming vector detectable?
No
Methods used
PCR
Files and images showing reprogramming vector expressed or silenced

Vector free reprogramming

Other

Derived under xeno-free conditions
Unknown
Derived under GMP?
Unknown
Available as clinical grade?
Unknown

Culture Conditions

Surface coating Matrigel/Geltrex
Medium mTeSR™ 1

Characterisation

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR Flow Cytometry Enzymatic Assay Expression Profiles
SOX2
Yes
POU5F1 (OCT-4)
Yes
NANOG
Yes
TRA 1-60
Yes
TRA 1-81
Yes
SSEA-4
Yes
Score:
Marker Present Absent
mCpG
OCT4
Morphology pictures
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro spontaneous differentiation
Marker Expressed
SOX17
Yes
AFP
Yes
Mesoderm
Ont Id: UBERON_0000926
In vitro spontaneous differentiation
Marker Expressed
TBXT
Yes
HAND1
Yes
Ectoderm
Ont Id: UBERON_0000924
In vitro spontaneous differentiation
Marker Expressed
PAX6
Yes
EOMES
Yes

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes

Other Genotyping (Cell Line)