GAA c.307T>G hiPSC

General

Cell Line

hPSCreg name HIMRi006-A
Cite as:
HIMRi006-A (RRID:CVCL_D6P1)
Alternative name(s)
GAA c.307T>G hiPSC
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines No similar lines found.
Last update 7th May 2024
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Provider

Generator Heimer Institute for Muscle Research (HIMR)

External Databases

BioSamples SAMEA114758323
Cellosaurus CVCL_D6P1

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 male

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • GSD due to acid maltase deficiency, infantile onset
  • GSD type 2, infantile onset
  • GSD type II, infantile onset
  • Pompe disease, infantile onset
  • alpha-1,4-glucosidase acid deficiency, infantile onset
  • glycogen storage disease type 2, infantile onset
  • glycogen storage disease type II, infantile onset
  • glycogenosis due to acid maltase deficiency, infantile onset
  • glycogenosis type 2, infantile onset
  • glycogenosis type II, infantile onset
show more synonyms

External Databases (Donor)

BioSamples SAMEA114759816

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. PD Dr. Andreas Roos
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 PD Dr. Andreas Roos
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? University Hospital Essen
Approval number 19-9011-BO
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
NANOG
Yes
POU5F1 (OCT-4)
Yes
SOX2
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 XY
Karyotyping method: Molecular karyotyping by SNP array
http://

Other Genotyping (Cell Line)