KAB07

The cell line is not validated yet.

General#

Cell Line

hPSCreg Name UMILi001-A
Alternative name(s)
KAB07
Cell line type Human induced pluripotent stem cell (hiPSC)
Last update 27th August 2019
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Provider

Generator University of Milan (UMIL)
Owner University of Milan (UMIL)
Distributors
Derivation country Italy

External Databases

BioSamples SAMEA6049736

General Information

Notes (KMT2D) p.Arg2635X
* Is the cell line readily obtainable for third parties?
Yes
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.
Kabuki Syndrome
Synonyms
  • 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, Abnormal dentition, Strabismus, Micrognathia, Ptosis, Oligodontie, Thin upper and full lower lip; Limb/skeletal features: Persistent fetal pads, Brachy/clinodactyly; Neurologic features: MR, Hypotonia

External Databases (Donor)

BioSamples SAMEA6049737

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 a copy of the SIGNED Donor Consent Form? No
If you do not hold the SIGNED 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#

General

Source cell type
fibroblast
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 Sendai virus
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#

Surface coating Matrigel/Geltrex
Feeder cells
No
Medium TeSR™ E8™
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?
Yes
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
POU5F1 (OCT-4)
Yes

Genotyping#

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Unknown

Other Genotyping (Cell Line)