NENCKIi002-A

MPAN-9.3

General

Cell Line

hPSCreg name NENCKIi002-A
Cite as:
NENCKIi002-A
Alternative name(s)
MPAN-9.3
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines No similar lines found.
Last update 26th June 2024
Notes An iPSC cell line derived from dermal fibroblasts of a patient with mitochondrial membrane protein-associated neurodegeneration (MPAN), subtype of neurodegeneration with brain iron accumulation (NBIA). We generated and characterized four lines of human induced pluripotent stem cell (hiPSCs) derived from dermal fibroblasts of patients carrying homozygous mutation c.204_214del11, p.(Gly69Argfs*10) in the C19orf12 gene.
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Provider

Generator Nencki Institute of Experimental Biology PAS (NENCKI)
Owner Nencki Institute of Experimental Biology PAS (NENCKI)
Derivation country Poland

External Databases

BioSamples SAMEA115779458

General Information

* 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
Age of donor (at collection) 25-29
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.
Stage
advanced
Synonyms
  • NBIA4
  • MPAN
  • Neurodegeneration with brain iron accumulation type 4
  • Neurodegeneration with brain iron accumulation due to C19orf12 mutation
  • NBIA due to C19orf12 mutation
show more synonyms
Genetic variants
C19orf12 (target)
NM_031448.6(C19orf12):c.171_181del (p.Gly58fs)
Homozygous
VCV000031155.28
Disease associated phenotypes
  • Dystonia
  • Parkinsonism
  • Iron accumulation in the brain

External Databases (Donor)

BioSamples SAMEA115773089

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. Institute of Psychiatry and Neurology in Warsaw, Poland
Do you (Depositor/Provider) hold the original Donor Consent Form? Yes
Alternatives to consent are available? No
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 prevent CELLS DERIVED FROM THE DONATED BIOSAMPLE from being made available to researchers anywhere in the world? Yes
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
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? Bioethics committee at the Institute of Psychiatry and Neurology in Warsaw
Approval number 2/2022
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
Source cell origin
Dermal fibroblasts are the major cell type in dermis and are commonly accepted as terminally differentiated cells.
Age of donor (at collection) 25-29
Collected in 2022
Passage number reprogrammed 3

Reprogramming method

Vector type Integrating
Vector Virus (Lentivirus)
Genes
Is the used vector excisable?
Unknown
Absence of reprogramming vector(s)?
Yes
Reprogramming vectors silenced?
Yes
Methods used
PCR
Files and images showing reprogramming vector expressed or silenced

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
O2 Concentration 21 %
CO2 Concentration 5 %
Medium Essential 8™
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?
No

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 1-81
Yes
Morphology pictures
MORPHOLOGY MPAN-9.3
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro spontaneous differentiation
Marker Expressed
SOX17
Yes
PDX1
Yes
Mesoderm
Ont Id: UBERON_0000926
In vitro spontaneous differentiation
Marker Expressed
HAND1
Yes
NKX2.5
Yes
Ectoderm
Ont Id: UBERON_0000924
In vitro spontaneous differentiation
Marker Expressed
SOX1
Yes
MAP2
Yes

Microbiology / Virus Screening

Mycoplasma Negative

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
46, XY
Passage number: 10
Karyotyping method: G-Banding

Other Genotyping (Cell Line)