CMGANTi004-A

SEMD2

General

Cell Line

hPSCreg Name
CMGANTi004-A
Alternative name(s)
SEMD2
Cell line type Human induced pluripotent stem cell (hiPSC)
Last update 6th July 2022
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Provider

Generator Center of Medical Genetics Antwerp (CMGANT)
Owner Center of Medical Genetics Antwerp (CMGANT)
Distributors
Derivation country Belgium

External Databases

BioSamples SAMEA14370027
CLO CLO_0103905
Cellosaurus CVCL_C1SX

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
Ethnicity Italian

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
X-linked spondyloepimetaphyseal dysplasia
The donor is a carrier of a disease-associated mutation and affected.
Genetic variants
Xq28
NM_001711:c.776G>T
NP_001702.1:p.Gly259Val
hemizygous
SCV000292438.1
PMID:27236923
Disease associated phenotypes
  • spondyloepimetaphyseal dysplasia
Family history Yes
Is the medical history available upon request? Publication Cho et al. BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia
Is clinical information available? Publication Cho et al. BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia

Karyotyping (Donor)

Has the donor karyotype been analysed?
Yes
46, XY. No clinically significant abnormalities observed.
Karyotyping method: Molecular karyotyping by SNP array
http://

Other Genotyping (Donor)

Is there genome-wide genotyping or functional data available?
Yes
SNP typing array
Dermal fibroblast DNA sample was genotyped with a HumanCytoSNP-12 assay (Illumina). No clinically significant CNVs observed.

Donor Relations

All cell lines of this donor's relatives
Has brother:

External Databases (Donor)

BioSamples SAMEA110100335

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: biobanknetwork@telethon.it
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
Contact information / weblink biobanknetwork@telethon.it
Alternatives to consent are available? Yes
Alternatives to consent
Alternative consent approval number
Please indicate whether the data associated with the donated material has been pseudonymised or anonymised. pseudonymised
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? Ethical committee Antwerp University Hospital
Approval number 11/8/79 2018.09.17
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
skin fibroblast

Reprogramming method

Vector type Non-integrating
Vector Sendai virus
Is reprogramming vector detectable?
No
Methods used
PCR

Vector free reprogramming

Other

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

Culture Conditions

Surface coating Matrigel/Geltrex
Feeder cells
No
Passage method Enzyme-free cell dissociation
EDTA
O2 Concentration 5 %
CO2 Concentration 5 %
Medium Essential 8™ Flex
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
POU5F1 (OCT-4)
Yes
NANOG
Yes
SOX2
Yes
TRA 1-60
Yes
TRA 1-81
Yes
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro directed differentiation
Marker Expressed
CXCR4
Yes
FOXA2
Yes
SOX17
Yes
Mesoderm
Ont Id: UBERON_0000926
In vitro directed differentiation
Marker Expressed
NKX2.5
Yes
ACTA2
Yes
Ectoderm
Ont Id: UBERON_0000924
In vitro directed differentiation
Marker Expressed
HES5
Yes
MAP2
Yes
PAX6
Yes

Microbiology / Virus Screening

Mycoplasma Negative

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
46, XY. No clinically relevant abnormalities observed.
Passage number: 11
Karyotyping method: Molecular karyotyping by SNP array
http://

Other Genotyping (Cell Line)

Is there genome-wide genotyping or functional data available?
Yes
SNP typing array
DNA sample was genotyped with a HumanCytoSNP-12 assay (Illumina). No clinically significant CNVs observed.