FLNC p.W2710X hiPSC

General

Cell Line

hPSCreg name HIMRi004-A
Cite as:
HIMRi004-A
Alternative name(s)
FLNC p.W2710X hiPSC
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines
HIMRi001-A
(p.Q1662X FLNC hiPSCs)
Donor diseases:
Muscle filaminopathy
HIMRi005-A
(FLNC p.Y2704X hiPSC)
Donor diseases:
Muscle filaminopathy
Last update 23rd November 2023
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Provider

Generator Heimer Institute for Muscle Research (HIMR)

External Databases

BioSamples SAMEA114710073

General Information

Publications
* 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
Ethnicity Caucasian

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • FLNC-associated myofibrillar myopathy
  • Filamin C-related filaminopathy
  • MFM5

Karyotyping (Donor)

Has the donor karyotype been analysed?
Yes
Karyotyping method: Molecular karyotyping by SNP array
http://

External Databases (Donor)

BioSamples SAMEA114709991

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: Prof. Dr. med. Matthias Vorgerd
Do you (Depositor/Provider) hold the original Donor Consent Form? 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? Yes
Does consent prevent CELLS DERIVED FROM THE DONATED BIOSAMPLE from being made available to researchers anywhere in the world? No

Does consent permit research by

an academic institution? Yes
How may genetic information associated with the cell line be accessed? Open 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? Ruhr-University Bochum, Medical Faculty
Approval number 15-5401, 08/2015
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 Integrating
Vector Virus (Lentivirus)
Is the used vector excisable?
No
Absence of reprogramming vector(s)?
Unknown
Reprogramming vectors silenced?
Yes

Vector free reprogramming

Other

Derived under xeno-free conditions
Unknown
Derived under GMP?
No
Available as clinical grade?
Unknown

Culture Conditions

Surface coating Matrigel/Geltrex
Feeder cells
No
Passage method Enzymatically
TrypLE
Medium Other medium:
Base medium: DMEM:F12
Main protein source: Albumine
Serum concentration: %
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 Flow Cytometry Enzymatic Assay Expression Profiles
POU5F1 (OCT-4)
Yes
SOX2
Yes
NANOG
Yes
TRA 1-60
Yes
SSEA-4
Yes
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro directed differentiation
Mesoderm
Ont Id: UBERON_0000926
In vitro directed differentiation
Ectoderm
Ont Id: UBERON_0000924
In vitro directed differentiation

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
46 XX
Karyotyping method: Molecular karyotyping by SNP array
http://

Other Genotyping (Cell Line)