General

Cell Line

hPSCreg Name
HMGUi003-A
Cell line type Human induced pluripotent stem cell (hiPSC)
Last update 7th December 2021
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Provider

Generator Helmholtz Zentrum München (HMGU)
Derivation country Germany

External Databases

BioSamples SAMEA11371739

General Information

Publications
* Is the cell line readily obtainable for third parties?
No

Donor Information

General Donor Information

Sex female

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
PPCS-deficiency OMIM * 609853
The donor is affected.
Genetic variants
1p34.2
NM_024664.3: c.538G-C; NM_024664.3 :c.320_334del
A180P; Pro107_Ala111del
Heterozygous
rs753011525
https://pubmed.ncbi.nlm.nih.gov/29754768/
Disease associated phenotypes
  • CARDIOMYOPATHY, DILATED, 2C, WITH MUSCULAR HYPOTONIA AND DYSMORPHIC FEATURES
Is the medical history available upon request? Yes
Is clinical information available? Yes

Karyotyping (Donor)

Has the donor karyotype been analysed?
Yes
46, XX

Other Genotyping (Donor)

Is there genome-wide genotyping or functional data available?
Yes

External Databases (Donor)

BioSamples SAMEA11308722

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 the original Donor Consent Form? No
If you do not hold the Donor Consent Form, do you know who does? Yes
Contact information / weblink Dorothea.Haas@med.uni-heidelberg.de
Confirm that consent was obtained by a qualified professional Yes
Has the donor agreed to be re-contacted? Unknown
Has the donor been informed about how her/his data will be protected? 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 expressly prevent the derivation of pluripotent stem cells? No
Does consent prevent the DONATED BIOSAMPLE from being made available to researchers anywhere in the world? No
Does consent prevent CELLS DERIVED FROM THE DONATED BIOSAMPLE from being made available to researchers anywhere in the world? No
Does consent expressly permit collection of genetic information? Yes
Does consent expressly permit storage of genetic information? Yes
Does consent prevent dissemination of genetic information? 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? Ethikkommission der Technischen Universität München
Approval number 2109/08
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
skin fibroblast

Reprogramming method

Vector type None

Vector free reprogramming

Type of used vector free reprogramming factor(s)
mRNA
mRNA

Other

Derived under xeno-free conditions
Unknown
Derived under GMP?
Unknown
Available as clinical grade?
Unknown

Culture Conditions

Surface coating Matrigel/Geltrex
Medium Other medium:
Base medium: iPS Brew XF
Main protein source:
Serum concentration: %

Characterisation

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR FACS Enzymatic Assay Expression Profiles
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
Marker Expressed
PDX1
Yes
SOX7
Yes
AFP
Yes
Mesoderm
Ont Id: UBERON_0000926
Marker Expressed
CD31
Yes
DESMIN
Yes
ACTA2
Yes
SCL
Yes
MYL2
Yes
CDH5
Yes
Ectoderm
Ont Id: UBERON_0000924
Marker Expressed
KRT14
Yes
NCAM1
Yes
TH
Yes
GABRR2
Yes

Genotyping

Karyotyping (Cell Line)

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

Other Genotyping (Cell Line)

Is there genome-wide genotyping or functional data available?
Yes