myasthenic syndrome due to mutation in ColQ, hiPS 5-9016

General#

Cell Line

hPSCreg Name REGUi009-A
Alternative name(s)
myasthenic syndrome due to mutation in ColQ, hiPS 5-9016
Cell line type Human induced pluripotent stem cell (hiPSC)
Last update 25th October 2020
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Provider

Generator Institute for Regenerative Medecine & Biotherapy U1183 (REGU)
Owner Saints-Pères Paris Institute for the Neurosciences (SPPIN)

External Databases

BioSamples SAMEA7628702
Cellosaurus CVCL_A1QD
CLO CLO_0103072

General Information

* Is the cell line readily obtainable for third parties?
Yes
Research: allowed
Clinical: allowed
Commercial: not allowed

Donor Information#

General Donor Information

Sex male

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
Congenital Myasthenic Syndrome
Homozygote C-terminal COLQ mutation
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • Congenital Myasthenic Syndrome
Disease associated phenotypes
  • myasthenia

Karyotyping (Donor)

Has the donor karyotype been analysed?
Yes
46 XY
Karyotyping method: M-FISH

External Databases (Donor)

BioSamples SAMEA7628701

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 a copy of the SIGNED Donor Consent Form? Yes
If you do not hold the SIGNED Donor Consent Form, have you obtained a copy of the unsigned Donor Consent Form from the holder? No
Confirm that consent was obtained by a qualified professional Yes
Has the donor agreed to be re-contacted? 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
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
Does the consent permit the donor, upon withdrawal of consent, to stop the use of the derived cell line(s) that have already been created from donated samples? Yes
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? Comité de protection des personnes Ile-de-France XI
Approval number AC-2018-3156
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? Yes
Name of accrediting authority involved? Comité de protection des personnes Ile-de-France XI
Approval number AC-2018-3156
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
Peripheral Blood Mononuclear Cell
A peripheral blood cell with a single nucleus. This category includes lymphocytes and monocytes.
Synonyms
  • PERIPHERAL BLOOD MONONUCLEAR CELL
  • Peripheral Blood Mononuclear Cell
  • Peripheral Blood Mononuclear cells
  • PBMC
show more synonyms
Source cell origin
Blood
A liquid tissue; its major function is to transport oxygen throughout the body. It also supplies the tissues with nutrients, removes waste products, and contains various components of the immune system defending the body against infection. Several hormones also travel in the blood.
Synonyms
  • Reticuloendothelial System, Blood
  • Peripheral Blood
  • peripheral blood
  • blood
  • Blood
  • Whole Blood
  • BLOOD
show more synonyms

Reprogramming method

Vector type Non-integrating
Vector Sendai virus
Genes

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
Medium Essential 8™
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?
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 FACS Enzymatic Assay Expression Profiles
POU5F1 (OCT-4)
Yes
NANOG
Yes
SOX2
Yes
SSEA-4
Yes
Score:
Marker Present Absent
mCpG
OCT4
Embryoid bodies generation
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro spontaneous differentiation
Marker Expressed
AFP
Yes
Mesoderm
Ont Id: UBERON_0000926
In vitro spontaneous differentiation
Marker Expressed
SMA
Yes
Ectoderm
Ont Id: UBERON_0000924
Marker Expressed
Tubulin beta-3
Yes

Genotyping#

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
46 XY
Passage number: 22

Other Genotyping (Cell Line)