General

Cell Line
hPSCreg name	UMILi015-A
Cite as: When citing this cell line, please use the hPSCreg name (see Naming Tool ) and the corresponding Research Resource ID (RRID).	UMILi015-A (RRID:CVCL_YC78)
Alternative name(s)	WVS03
Cell line type	Human induced pluripotent stem cell (hiPSC)
Similar lines	UMILi013-A (WVS01) Donor diseases: Weaver Syndrome UMILi012-A (WVS02) Donor diseases: Weaver Syndrome UMILi014-A (WVS04) Donor diseases: Weaver Syndrome UMILi021-A (WBS03) Donor diseases: Williams-Beuren syndrome UMILi023-A (WBS02) Donor diseases: Williams-Beuren syndrome UMILi009-A (GAD02) Donor diseases: Gabriele-de Vries syndrome WTSIi464-B (HPSI0516i-eitu_4) Donor diseases: Usher syndrome WTSIi486-B (HPSI0516i-hapz_2) Donor diseases: Usher syndrome WTSIi669-A (HPSI0816i-aorf_1) Donor diseases: Usher syndrome WTSIi415-A (HPSI0614i-laig_1) Donor diseases: Bardet-Biedl syndrome ZZUi014-A (ZZU-iPS-SCA3-002) Donor diseases: Spinocerebellar ataxia type 3 WTSIi149-A (HPSI0913i-laia_4) Donor diseases: Bardet-Biedl syndrome WTSIi150-A (HPSI0414i-jetz_1) Donor diseases: Bardet-Biedl syndrome WTSIi419-A (HPSI0514i-kidt_1) Donor diseases: Bardet-Biedl syndrome WTSIi153-A (HPSI0414i-puvg_1) Donor diseases: Bardet-Biedl syndrome WTSIi422-A (HPSI0414i-zazi_4) Donor diseases: Bardet-Biedl syndrome WTSIi155-A (HPSI0414i-hutq_1) Donor diseases: Bardet-Biedl syndrome WTSIi156-A (HPSI0414i-xugr_2) Donor diseases: Bardet-Biedl syndrome WTSIi157-A (HPSI0614i-eavo_1) Donor diseases: Bardet-Biedl syndrome TRDSi004-A (TRDS-Cardio-012) Donor diseases: long QT syndrome 2 WTSIi426-A (HPSI0714i-mejk_1) Donor diseases: Bardet-Biedl syndrome WTSIi160-A (HPSI0914i-verf_1) Donor diseases: Bardet-Biedl syndrome WTSIi162-A (HPSI0914i-lopq_1) Donor diseases: Bardet-Biedl syndrome WTSIi163-A (HPSI1014i-suok_3) Donor diseases: Bardet-Biedl syndrome WTSIi164-A (HPSI0614i-foyj_1) Donor diseases: Bardet-Biedl syndrome WTSIi166-A (HPSI0414i-wize_1) Donor diseases: Bardet-Biedl syndrome WTSIi669-B (HPSI0816i-aorf_2) Donor diseases: Usher syndrome WTSIi453-A (HPSI0416i-fiwt_3) Donor diseases: Usher syndrome WTSIi457-A (HPSI0115i-iinu_3) Donor diseases: Bardet-Biedl syndrome WTSIi464-A (HPSI0516i-eitu_3) Donor diseases: Usher syndrome WTSIi474-A (HPSI0216i-dewh_6) Donor diseases: Usher syndrome WTSIi485-A (HPSI0614i-kecw_3) Donor diseases: Bardet-Biedl syndrome WTSIi486-A (HPSI0516i-hapz_3) Donor diseases: Usher syndrome WTSIi488-A (HPSI0516i-oazw_4) Donor diseases: Usher syndrome WTSIi495-A (HPSI0314i-kujn_2) Donor diseases: Bardet-Biedl syndrome WTSIi510-A (HPSI0216i-xanu_5) Donor diseases: Usher syndrome WTSIi527-A (HPSI0216i-heub_1) Donor diseases: Usher syndrome WTSIi485-B (HPSI0614i-kecw_4) Donor diseases: Bardet-Biedl syndrome WTSIi399-B (HPSI0614i-gawh_12) Donor diseases: Bardet-Biedl syndrome WTSIi415-B (HPSI0614i-laig_2) Donor diseases: Bardet-Biedl syndrome WTSIi033-A (HPSI1013i-aetc_1) Donor diseases: Bardet-Biedl syndrome WTSIi034-A (HPSI0913i-kojv_2) Donor diseases: Bardet-Biedl syndrome WTSIi035-A (HPSI0913i-gooj_1) Donor diseases: Bardet-Biedl syndrome WTSIi457-B (HPSI0115i-iinu_5) Donor diseases: Bardet-Biedl syndrome WTSIi527-B (HPSI0216i-heub_6) Donor diseases: Usher syndrome WTSIi474-B (HPSI0216i-dewh_4) Donor diseases: Usher syndrome WTSIi510-B (HPSI0216i-xanu_6) Donor diseases: Usher syndrome WTSIi548-B (HPSI0416i-mefc_1) Donor diseases: Usher syndrome WTSIi399-A (HPSI0614i-gawh_7) Donor diseases: Bardet-Biedl syndrome WTSIi488-B (HPSI0516i-oazw_3) Donor diseases: Usher syndrome
Last update	17th February 2023
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Provider
Generator	University of Milan (UMIL)
External Databases
BioSamples	SAMEA6049772
Cellosaurus	CVCL_YC78
Wikidata	Q98134182
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	female
Phenotype and Disease related information (Donor)
Diseases	A disease was diagnosed. Weaver Syndrome Weaver Syndrome. EZH2, c. 2212 G>A pAla738Thr The donor is a carrier of a disease-associated mutation and affected. Synonyms Weaver Syndrome WVS Weaver-Smith Syndrome
External Databases (Donor)
BioSamples	SAMEA6049773

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.	Maria Iascone asst-pg23.it/section/737/MARIA_IASCONE
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?	Yes
Please provide the contact information	Maria Iascone asst-pg23.it/section/737/MARIA_IASCONE
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)