OSRi009-A-1

SGS_D868D

General#

Cell Line

hPSCreg Name
OSRi009-A-1
Alternative name(s)
SGS_D868D
Cell line type Human induced pluripotent stem cell (hiPSC)
Last update 17th August 2021
Notes This line represents the correction by CRISPR of the Schinzel-Giedion syndrome mutation D868N of the SGS_D868N line (OSRi009-A)
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Provider

Generator Ospedale San Raffaele (OSR)

External Databases

BioSamples SAMEA9679973
CLO CLO_0103481
Cellosaurus CVCL_A0XZ

General Information

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

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
  • Ddevelopmetal delay
  • Seizures
  • Cardiac defects
  • Facial Dysmorphism

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#

Also have a look at the ethics information for the parental line OSRi009-A .
For generation of the cell line, who was the supplier of any recombined DNA vectors or commercial kits used?

hIPSC Derivation#

General

The source cell information can be found in the parental cell line OSRi009-A.

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?
Unknown
Available as clinical grade?
Unknown

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
NANOG
Yes
SOX2
Yes
TRA 1-60
Yes
POU5F1 (OCT-4)
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)

Genetic Modification#

Disease/phenotype related modifications
Schinzel-Giedion Midface-Retraction Syndrome
Synonyms
  • Schinzel-Giedion Syndrome
  • Schinzel-Giedion Midface-Retraction Syndrome
Genetic modifications
SETBP1 (target)
Isogenic modification
18q12.3
Heterozygous
D868N mutation corrected by CRISPR. Sanger sequence of the alleles confirmed the correction
Repaired