The cell line is not validated yet.


Cell Line

hPSCreg Name UMILi010-A
Alternative name(s)
Cell line type Human induced pluripotent stem cell (hiPSC)
Last update 20th January 2020
Notes (YY1) p.Lys179*
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Generator University of Milan (UMIL)
Owner University of Milan (UMIL)
Derivation country Italy

External Databases

BioSamples SAMEA6049762
Cellosaurus CVCL_YC73
CLO CLO_0102417

General Information

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

Donor Information#

General Donor Information

Sex female

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
Gabriele-de Vries syndrome
Gabriele-de Vries syndrome (GADEVS)
  • YY1 haploinsufficiency syndrome
Disease associated phenotypes
  • Facial dysmorphisms: Full nasal tip with thick columella, Full lower tip; Neurologic features: Behavioral problems (ADHD), sleeping problems, progressive torsion dystonia; Development: Mild intellectual disability; Other: Hemihypotrophy of distal part of left leg, dysphagia, Hypermetropia, Oesophageal atresia with TE fistula

External Databases (Donor)

BioSamples SAMEA6049763


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: Jozef Gecz
Do you (Depositor/Provider) hold the original Donor Consent Form? No
If you do not hold the Donor Consent Form, do you know who does? No
If you do not hold the SIGNED Donor Consent Form, have you obtained a copy of the unsigned Donor Consent Form from the holder? 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? No information
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?
Approval number
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? No
For generation of the cell line, who was the supplier of any recombined DNA vectors or commercial kits used?

hIPSC Derivation#


Source cell type
EBV-LCL cell
Human B-lymphoblastoid cell line transformed by Epstein-Barr (EBV-LCLs) Virus.

Reprogramming method

Vector type Non-integrating
Vector Sendai virus
Is reprogramming vector detectable?
Methods used

Vector free reprogramming


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

Culture Conditions#

Surface coating Matrigel/Geltrex
Feeder cells
Medium TeSR™ E8™
Pen/Strep 1 %
Has Rock inhibitor (Y27632) been used at passage previously with this cell line?
Has Rock inhibitor (Y27632) been used at cryo previously with this cell line?
Has Rock inhibitor (Y27632) been used at thaw previously with this cell line?


Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR FACS Enzymatic Assay Expression Profiles
POU5F1 (OCT-4)


Karyotyping (Cell Line)

Has the cell line karyotype been analysed?

Other Genotyping (Cell Line)