sord1 DM

General

Cell Line

hPSCreg name UMi047-A
Cite as:
UMi047-A
Alternative name(s)
sord1 DM
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines
Last update 19th March 2024
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Provider

Generator University of Miami - Miller School of Medicine (UM)

External Databases

BioSamples SAMEA115145676

General Information

* Is the cell line readily obtainable for third parties?
Yes
Research use: allowed

Donor Information

General Donor Information

Sex female
Ethnicity German, Swedish

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
Donor has SORD related neuropathy as described here: Cortese, A., Zhu, Y., Rebelo, A.P. et al. Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nat Genet 52, 473–481 (2020). https://doi.org/10.1038/s41588-020-0615-4
The donor is a carrier of a disease-associated mutation and affected.

Karyotyping (Donor)

Has the donor karyotype been analysed?
Unknown

External Databases (Donor)

BioSamples SAMEA115177138

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
Provide contact information of the holder of the original Donor Information Sheet: tiffany-grider@uiowa.edu
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
Contact information / weblink tiffany-grider@uiowa.edu
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? Yes
Does consent expressly prevent 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? Controlled Access
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? University of Iowa
Approval number 201201787
Do you have obligations to third parties in regard to the use of the cell line? No
Are you aware of any further constraints on the use of the 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
Dermal fibroblasts are the major cell type in dermis and are commonly accepted as terminally differentiated cells.

Reprogramming method

Vector type Non-integrating
Vector Sendai virus
Is reprogramming vector detectable?
No
Methods used
RT-PCR

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
Passage method Enzyme-free cell dissociation
EDTA
CO2 Concentration 5 %
Medium mTeSR™ Plus
Has Rock inhibitor (Y27632) been used at passage previously with this cell line?
No
Has Rock inhibitor (Y27632) been used at cryo previously with this cell line?
No
Has Rock inhibitor (Y27632) been used at thaw previously with this cell line?
Yes

Characterisation

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR Flow Cytometry Enzymatic Assay Expression Profiles
NANOG
Yes
SOX2
Yes
POU5F1 (OCT-4)
Yes
SSEA-3
Yes
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro spontaneous differentiation
Marker Expressed
AFP
Yes
FOXA2
Yes
Morphology
Mesoderm
Ont Id: UBERON_0000926
In vitro spontaneous differentiation
Marker Expressed
ACTA2
Yes
Brachyury protein/ TBXT
Yes
Morphology
Ectoderm
Ont Id: UBERON_0000924
In vitro spontaneous differentiation
Marker Expressed
PAX6
Yes
TUBB3
Yes
Morphology

Microbiology / Virus Screening

Mycoplasma Negative

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
46XX
Passage number: 14
Karyotyping method: G-Banding

Other Genotyping (Cell Line)