IBKMOLi002-A

CACNA1D L271H iPCs

General

Cell Line

hPSCreg Name
IBKMOLi002-A
Alternative name(s)
CACNA1D L271H iPCs
Cell line type Human induced pluripotent stem cell (hiPSC)
Last update 11th April 2022
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Provider

Generator University of Innsbruck, Institute of Molecular Biology (IBKMOL)
Derivation country Austria

External Databases

BioSamples SAMEA9468091
CLO CLO_0103711
Cellosaurus CVCL_C0HB

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.
Autism Spectrum Disorder (primary disease)
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • Pervasive Developmental Disorders
  • Autism Spectrum Disorder
Genetic variants
CACNA1D (target)
3p21.1
NM_000720.4:g.1368T>A
NP_000711.1:p.Leu271His
Heterozygous
32336187
hyperinsulinemic hypoglycemia
Synonyms
  • nesidioblastosis
  • persistent hyperinsulinemia hypoglycemia of infancy
  • Nesidioblastosis
  • hyperinsulinemic hypoglycemia
  • islet cell hyperplasia
  • hyperinsulinemic hypoglycemia (disease)
  • Islet cell hyperplasia
  • hyperinsulinemia hypoglycemia
show more synonyms
Primary hyperaldosteronism
Muscle Hypotonia

Karyotyping (Donor)

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

External Databases (Donor)

BioSamples SAMEA10458446

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: Frank.Edenhofer@uibk.ac.at
Do you (Depositor/Provider) hold the original Donor Consent Form? Yes
Alternatives to consent are available? No
Is there other documentation provided to the donor for consenting purposes? No
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. pseudonymised
Does consent expressly prevent the derivation of pluripotent stem cells? No
Does consent pertain to a specific research project? No
Does consent expressly prevent development of commercial products? No
Does consent expressly prevent financial gain from any use of the donated embryo/tissue, including any product made from it? 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 permit research by

an academic institution? Yes
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? Ethics committee of the Medical University of Innsbruck
Approval number 1053/2018
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? Ethics committee of the Medical University of Innsbruck
Approval number 1053/2018
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
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

Reprogramming method

Vector type Non-integrating
Vector Sendai virus
Genes
Is reprogramming vector detectable?
Unknown

Vector free reprogramming

Other

Selection criteria for clones Picking of colonies exhibiting typical iPSC morphology. After expansion of colonies expression of pluripotency markers (Tra-1-60, SSEA-4) were analzyed.
Derived under xeno-free conditions
Unknown
Derived under GMP?
No
Available as clinical grade?
No

Culture Conditions

Surface coating Matrigel/Geltrex
Feeder cells
No
Passage method Enzymatically
Accutase
O2 Concentration 20 %
CO2 Concentration 5 %
Medium Other medium:
Base medium: StemMACS iPS-Brew XF
Main protein source:
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?
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 FACS Enzymatic Assay Expression Profiles
SOX2
Yes
POU5F1 (OCT-4)
Yes
TRA 1-60
Yes
SSEA-4
Yes
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro directed differentiation
Marker Expressed
FOXA2
Yes
Mesoderm
Ont Id: UBERON_0000926
In vitro directed differentiation
Marker Expressed
ACTA2
Yes
Ectoderm
Ont Id: UBERON_0000924
In vitro directed differentiation
Marker Expressed
PAX6
Yes
NESTIN
Yes

Microbiology / Virus Screening

Mycoplasma Negative

Genotyping

Karyotyping (Cell Line)

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

Other Genotyping (Cell Line)