General

Cell Line
hPSCreg name	UMILi012-A
Cite as: When citing this cell line, please use the hPSCreg name (see Naming Tool ) and the corresponding Research Resource ID (RRID).	UMILi012-A (RRID:CVCL_YC75)
Alternative name(s)	WVS02
Cell line type	Human induced pluripotent stem cell (hiPSC)
Similar lines	UMILi014-A (WVS04) Donor diseases: Weaver Syndrome UMILi013-A (WVS01) Donor diseases: Weaver Syndrome UMILi015-A (WVS03) Donor diseases: Weaver Syndrome UMGWi001-B (Z1 K3v3) Donor diseases: Floating-Harbor syndrome UMILi020-A (WBS04) Donor diseases: Williams-Beuren syndrome UMILi022-A (WBS01) Donor diseases: Williams-Beuren syndrome WTSIi414-B (HPSI0614i-eisk_6) Donor diseases: Bardet-Biedl syndrome WTSIi405-B (HPSI0614i-fovu_5) Donor diseases: Bardet-Biedl syndrome WTSIi458-B (HPSI0614i-lipl_5) Donor diseases: Bardet-Biedl syndrome WTSIi573-A (HPSI0115i-qaqp_4) Donor diseases: Bardet-Biedl syndrome WTSIi576-A (HPSI0216i-feht_1) Donor diseases: Usher syndrome WTSIi402-B (HPSI0714i-ouzk_4) Donor diseases: Bardet-Biedl syndrome WTSIi465-B (HPSI0714i-xiry_1) Donor diseases: Bardet-Biedl syndrome WTSIi407-B (HPSI0914i-hidy_3) Donor diseases: Bardet-Biedl syndrome WTSIi452-B (HPSI0115i-xaka_1) Donor diseases: Bardet-Biedl syndrome WTSIi573-B (HPSI0115i-qaqp_5) Donor diseases: Bardet-Biedl syndrome WTSIi450-B (HPSI0216i-aiid_6) Donor diseases: Usher syndrome WTSIi516-B (HPSI0216i-iogu_6) Donor diseases: Usher syndrome WTSIi447-B (HPSI0416i-zige_2) Donor diseases: Usher syndrome WTSIi522-B (HPSI0516i-pews_2) Donor diseases: Usher syndrome WTSIi402-A (HPSI0714i-ouzk_5) Donor diseases: Bardet-Biedl syndrome WTSIi403-A (HPSI0913i-rufg_4) Donor diseases: Bardet-Biedl syndrome WTSIi405-A (HPSI0614i-fovu_2) Donor diseases: Bardet-Biedl syndrome WTSIi406-A (HPSI0614i-mesr_4) Donor diseases: Bardet-Biedl syndrome STBCi110-A (SFC116-03-01) Donor's gene variants: CFH Donor diseases: type 2 diabetes mellitus age-related macular degeneration WTSIi407-A (HPSI0914i-hidy_4) Donor diseases: Bardet-Biedl syndrome WTSIi454-B (HPSI0516i-iool_4) Donor diseases: Usher syndrome WTSIi414-A (HPSI0614i-eisk_3) Donor diseases: Bardet-Biedl syndrome WTSIi147-A (HPSI1013i-mijn_2) Donor diseases: Bardet-Biedl syndrome WTSIi148-A (HPSI0114i-veui_3) Donor diseases: Bardet-Biedl syndrome WTSIi151-A (HPSI0414i-fixm_2) Donor diseases: Bardet-Biedl syndrome WTSIi152-A (HPSI0414i-eafb_1) Donor diseases: Bardet-Biedl syndrome WTSIi154-A (HPSI0414i-lavd_2) Donor diseases: Bardet-Biedl syndrome WTSIi158-A (HPSI0914i-fuhz_1) Donor diseases: Bardet-Biedl syndrome WTSIi159-A (HPSI0714i-gibe_2) Donor diseases: Bardet-Biedl syndrome WTSIi161-A (HPSI0714i-rajk_1) Donor diseases: Bardet-Biedl syndrome WTSIi165-A (HPSI0414i-reng_4) Donor diseases: Bardet-Biedl syndrome WTSIi167-A (HPSI1013i-funy_1) Donor diseases: Bardet-Biedl syndrome VUi005-A (787.3) Donor diseases: Schizophrenia VUi006-A (SCZ 21.5) Donor diseases: Schizophrenia VUi008-A (SCZ 6.2) Donor diseases: Schizophrenia VUi009-A (SCZ 10.1) Donor diseases: Schizophrenia VUi010-A (SCZ 1.1) Donor diseases: Schizophrenia VUi012-A (SCZ 7.2) Donor diseases: Schizophrenia VUi013-A (804.3) Donor diseases: Schizophrenia WTSIi447-A (HPSI0416i-zige_5) Donor diseases: Usher syndrome VUi017-A (SCZ4.3) Donor diseases: Schizophrenia WTSIi450-A (HPSI0216i-aiid_1) Donor diseases: Usher syndrome WTSIi452-A (HPSI0115i-xaka_2) Donor diseases: Bardet-Biedl syndrome WTSIi454-A (HPSI0516i-iool_6) Donor diseases: Usher syndrome
Last update	17th February 2023
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Provider
Generator	University of Milan (UMIL)
External Databases
BioSamples	SAMEA6049768
Cellosaurus	CVCL_YC75
Wikidata	Q98134176
General Information
* Is the cell line readily obtainable for third parties?	Yes Research use: allowed Clinical use: not allowed Commercial use: not allowed

Donor Information

General Donor Information
Sex	male
Phenotype and Disease related information (Donor)
Diseases	A disease was diagnosed. Weaver Syndrome Weaver Syndrome. EZH2, c. 1876 G>A pVal626Met Synonyms Weaver Syndrome WVS Weaver-Smith Syndrome
External Databases (Donor)
BioSamples	SAMEA6049769

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?	No
Please provide contact information of the holder of the original Donor Information Sheet.	Rosanna Weksberg http//www.sickkids.ca/AboutSickKids/Directory/People/W/Rosanna-Weksberg-Staff-Profile.html
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

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	Simplicon RNA Reprogramming Kit (Millipore)
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 Supplement Amount Unit 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 Expression

Marker	Expressed	Immunostaining	RT-PCR	Flow Cytometry	Enzymatic Assay	Expression Profiles
NANOG	Yes
POU5F1 (OCT-4)	Yes
SOX2	Yes

Genotyping

Karyotyping (Cell Line)
Has the cell line karyotype been analysed?	Unknown
Other Genotyping (Cell Line)