SGS_D868N

General#

Cell Line

hPSCreg Name
OSRi009-A
Alternative name(s)
SGS_D868N
Cell line type Human induced pluripotent stem cell (hiPSC)
Last update 17th August 2021
Notes Reprogrammed from Schinzel-Giedion syndrome patient carrying D868N substitution
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Provider

Generator Ospedale San Raffaele (OSR)
Distributors
Derivation country Italy

External Databases

BioSamples SAMEA9679952
CLO CLO_0103459
Cellosaurus CVCL_A0XY

General Information

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

Donor Information#

General Donor Information

Sex male

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
Schinzel-Giedion Midface-Retraction Syndrome
Disease mutation: D868N aa substitution in one allele of SETBP1 gene
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • Schinzel-Giedion Syndrome
  • Schinzel-Giedion Midface-Retraction Syndrome
Disease associated phenotypes
  • Developmental delay
  • Seizures
  • Cardiac defects
  • Facial dysmorphisms

Karyotyping (Donor)

Has the donor karyotype been analysed?
Unknown

Other Genotyping (Donor)

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

External Databases (Donor)

BioSamples SAMEA9679953

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
Alternatives to consent are available? No
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? Yes
Does consent expressly prevent the derivation of pluripotent stem cells? No
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 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? No information
Will the donor expect to receive financial benefit, beyond reasonable expenses, in return for donating the biosample? 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
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? No
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
Fibroblasts
Source cell origin
skin fibroblast

Reprogramming method

Vector type Non-integrating
Vector Sendai virus
Genes
Is reprogramming vector detectable?
Unknown

Vector free reprogramming

Other

Derived under xeno-free conditions
Unknown
Derived under GMP?
No
Available as clinical grade?
No

Culture Conditions#

Medium mTeSR™ 1
Supplements
Pen/Strep 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 FACS Enzymatic Assay Expression Profiles
TRA 1-60
Yes
NANOG
Yes
POU5F1 (OCT-4)
Yes
SOX2
Yes
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro spontaneous differentiation
Marker Expressed
FOXA2
Yes
Mesoderm
Ont Id: UBERON_0000926
In vitro spontaneous differentiation
Marker Expressed
ACTA2
Yes
Ectoderm
Ont Id: UBERON_0000924
In vitro spontaneous differentiation
Marker Expressed
TUBB3
Yes

Genotyping#

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
46XY
Passage number: P30
Karyotyping method: Q-banding

Other Genotyping (Cell Line)