CRB1 patient c.3122T>C p.(Met1041Thr) homozygote, LUMC0116iCRB09
LUMCi054-A
General
Cell Line |
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| hPSCreg name | LUMCi054-A |
| Cite as: | LUMCi054-A |
| Alternative name(s) |
CRB1 patient c.3122T>C p.(Met1041Thr) homozygote, LUMC0116iCRB09
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| 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 |
| User feedback | |
Provider |
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| Generator | Leiden University Medical Center (LUMC) |
| Owner | Leiden University Medical Center (LUMC) |
| Distributors | |
| Derivation country | Netherlands |
External Databases |
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| BioSamples | SAMEA115120807 |
General Information |
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| 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
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| Subclones | |
Donor Information
General Donor Information |
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| Sex | male |
| Ethnicity | white |
Phenotype and Disease related information (Donor) |
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| Diseases | A disease was diagnosed.
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| Disease associated phenotypes |
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| Is the medical history available upon request? | yes |
| Is clinical information available? | yes |
Karyotyping (Donor) |
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| Has the donor karyotype been analysed? |
Yes
normal
Karyotyping method:
G-Banding
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Other Genotyping (Donor) |
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| Is there genome-wide genotyping or functional data available? |
Yes
copy number variation analysis
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External Databases (Donor) |
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| 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 |
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| Source cell type |
Synonyms
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Reprogramming method |
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| 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
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Vector free reprogramming |
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Other |
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| 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
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| Medium |
mTeSR™ Plus
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| 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 |
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| NANOG |
Yes |
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| POU5F1 (OCT-4) |
Yes |
Differentiation Potency
In vitro spontaneous differentiation
Protocol or reference
In vitro spontaneous differentiation
Protocol or reference
In vitro spontaneous differentiation
Protocol or reference
Certificate of Analysis |
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| Is there a certificate of analysis available? |
Yes
Passage:
5
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Genotyping
Karyotyping (Cell Line) |
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| Has the cell line karyotype been analysed? |
Yes
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Other Genotyping (Cell Line) |
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