The cell line is not validated yet.


Cell Line

hPSCreg Name
Alternative name(s)
Cell line type Human induced pluripotent stem cell (hiPSC)
Last update 29th August 2019
Notes (KMT2D) p.Arg2635X
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Generator University of Milan (UMIL)
Owner University of Milan (UMIL)
Derivation country Italy

External Databases

BioSamples SAMEA6049748
Cellosaurus CVCL_YC68
CLO CLO_0102425
Wikidata Q98134160

General Information

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

Donor Information

General Donor Information

Sex female

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
Kabuki Syndrome
  • KMS
  • Kabuki Make-Up Syndrome
  • Niikawa-Kuroki Syndrome
  • Kabuki Syndrome
  • Kabuki Make-up Syndrome
show more synonyms
Disease associated phenotypes
  • Facial dysmorphisms: Long palpebral fissures, Everted lower eyelids, Large dysplastic ears, Arched eyebrows, Flat nasal tip, Abnormal dentition, High/cleft palate, Strabismus, Ptosis, Broad nasal root, Thin upper and full lower lip; Limb/skeletal features: Persistent fetal pads, Branchy/clinodactyly, Lax joints, Hip dislocation; Neurologic features: MR, Microcephaly

Donor Relations

All cell lines of this donor's relatives
Has mother:

External Databases (Donor)

BioSamples SAMEA6049749


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? No
If you do not hold the Donor Consent Form, do you know who does? 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? 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
A connective-tissue cell of mesenchymal origin that secretes proteins and especially molecular collagen from which the extracellular fibrillar matrix of connective tissue forms.

Reprogramming method

Vector type Non-integrating
Vector Simplicon RNA Reprogramming Kit (Millipore)

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)