CRB1 patient c.3122T>C p.(Met1041Thr) homozygote, LUMC0116iCRB09

General

Cell Line

hPSCreg name LUMCi054-A
Cite as:
LUMCi054-A
Alternative name(s)
CRB1 patient c.3122T>C p.(Met1041Thr) homozygote, LUMC0116iCRB09
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines
LUMCi054-A-2
(LUMC0116iCRB09 ISO-03, LUMC0116iCRB09 heterozygote CRISPR corrected isogenic clone 03, iso03LUMC0116iCRB09)
Donor's gene variants:
CRB1, CRB1, CRB1
Donor diseases:
Retinitis Pigmentosa
LUMCi054-A-1
(LUMC0116iCRB09 ISO-02, LUMC0116iCRB09 homozygote CRISPR corrected isogenic clone 02, iso02LUMC0116iCRB09)
Donor's gene variants:
CRB1, CRB1, CRB1
Donor diseases:
Retinitis Pigmentosa
LUMCi055-A
(CRB1 patient 117 compound heterozygous 2983G>T p.(Glu995*) c.1892A>G, p.(Tyr631Cys), LUMC0117iCRB01)
Donor's gene variants:
CRB1, CRB1
Donor diseases:
Retinitis Pigmentosa
LUMCi056-A
(CRB1 patient 128 compound heterozygous c.2843G>A p.(Cys948Tyr) and c.3122T>C p.(Met1041Thr), LUMC0128iCRB01)
Donor's gene variants:
CRB1, CRB1
Donor diseases:
Retinitis Pigmentosa
LUMCi056-A-1
(LUMC0128iCRB01 heterozygote CRISPR corrected isogenic clone 02, iso02LUMC0128iCRB01)
Donor's gene variants:
CRB1, CRB1
Donor diseases:
Retinitis Pigmentosa
Last update 22nd January 2024
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Provider

Generator Leiden University Medical Center (LUMC)
Owner Leiden University Medical Center (LUMC)
Distributors
Derivation country Netherlands

External Databases

BioSamples SAMEA115120807

General Information

Projects
* Is the cell line readily obtainable for third parties?
Yes
Cell line can only be used in: EU
Research use: allowed
Clinical use: not allowed
Commercial use: allowed
Subclones

Donor Information

General Donor Information

Sex male
Ethnicity white

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
CRB1
The donor is a carrier of a disease-associated mutation and affected.
Genetic variants
CRB1 (target)
Homozygous
30956116
Disease associated phenotypes
  • retinitis pigmentosa
Is the medical history available upon request? yes
Is clinical information available? yes

Karyotyping (Donor)

Has the donor karyotype been analysed?
Yes
normal
Karyotyping method: G-Banding

Other Genotyping (Donor)

Is there genome-wide genotyping or functional data available?
Yes
copy number variation analysis

External Databases (Donor)

BioSamples SAMEA115120808

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. camiel.boon@amsterdamumc.nl
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 camiel.boon@amsterdamumc.nl
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? Yes
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 explicitly allow the derivation of pluripotent stem cells? Yes
Does consent expressly prevent the derivation of pluripotent stem cells? No
Does consent pertain to a specific research project? No
Does consent permit unforeseen future research, without further consent? Yes
Does the consent permit uses of donated embryo/tissue or derived cell line intended for clinical treatment or human applications? 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 expressly permit storage of donated embryo/tissue for an unlimited time? Yes
Does consent expressly permit storage of cells derived from the donated embryo/tissue for an unlimited time? Yes
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
a public organisation? No
a non-profit company? No
a for-profit corporation? No
Does consent expressly permit collection of genetic information? Yes
Does consent expressly permit storage of genetic information? Yes
Does consent prevent dissemination of genetic information? No
Has the donor been informed that their donated biosample or derived cells may be tested for the presence of microbiological agents / pathogens? Yes
Has the donor consented to receive information discovered during use of donated embryo/tissue that has significant health implications for the donor? 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? Yes
Does the consent anticipate that the donor will be notified of results or outcomes of any research involving the donated samples or derived cells? 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? No
Does the consent permit the donor, upon withdrawal of consent, to stop delivery or use of information and data about the donor? No
Does consent permit access to medical records of the donor? Yes
Please describe how access is provided: institution
Does consent permit access to any other source of information about the clinical treatment or health of the donor? Yes
Contact data, institution, or website: institution
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? METC
Approval number P13.080
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? METC
Approval number NI,45478.058.13
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
Is there an MTA available for the cell line? No
For generation of the cell line, who was the supplier of any recombined DNA vectors or commercial kits used?
Are you aware of any constraints on the use or distribution of the cell line from the owner or any parties identified in the query above? Yes
Constraints for use or distribution MTA needed & LUMC and EU regulations

hIPSC Derivation

General

Source cell type
Synonyms
  • fibroblast
  • Fibroblasts
  • Fibroblast
  • FIBROBLAST
show more synonyms

Reprogramming method

Vector type Integrating
Vector Virus (Lentivirus)
Genes
Is the used vector excisable?
No
Absence of reprogramming vector(s)?
No
Reprogramming vectors silenced?
No
Methods used
Immunostaining, PCR, RT-PCR, Sequencing

Vector free reprogramming

Other

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

Culture Conditions

Surface coating Matrigel/Geltrex
Feeder cells
No
Passage method Enzyme-free cell dissociation
Gentle Cell Dissociation Reagent
Medium mTeSR™ Plus
Has Rock inhibitor (Y27632) been used at passage previously with this cell line?
Unknown
Has Rock inhibitor (Y27632) been used at cryo previously with this cell line?
Unknown
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
SSEA-4
Yes
NANOG
Yes
POU5F1 (OCT-4)
Yes
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro spontaneous differentiation
Mesoderm
Ont Id: UBERON_0000926
In vitro spontaneous differentiation
Ectoderm
Ont Id: UBERON_0000924
In vitro spontaneous differentiation

Certificate of Analysis

Is there a certificate of analysis available?
Yes
Passage: 5

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
normal
Karyotyping method: G-Banding

Other Genotyping (Cell Line)