PRPF31 RH

General#

Cell Line

hPSCreg Name UNEWi005-A
Alternative name(s)
PRPF31 RH
Cell line type Human induced pluripotent stem cell (hiPSC)
Last update 11th February 2020
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Provider

Generator University of Newcastle (UNEW)
Owner Institute of Genetic Medicine
Distributors

External Databases

BioSamples SAMEA3275904
Cellosaurus CVCL_9S40
ECACC 66540020
EBiSC UNEWi005-A

General Information

Publications
Projects
* Is the cell line readily obtainable for third parties?
Yes
Research: allowed
Clinical: not allowed
Commercial: allowed

Donor Information#

General Donor Information

Sex male
Age of donor (at collection) 50-54

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
Retinitis pigmentosa
The donor is affected.
Stage
Moderate
Genetic variants
PRPF31 (target)
19q13.42
PRPF31: c.1115_1125 del11
Disease associated phenotypes
  • Retinitis Pigmentosa
  • Age of onset: 10 years old
  • presented with night blindness at 10 years old
  • cataracts requiring surgery at early age
  • current acuity 6/9 both eyes and still meeting legal requirements for driving
  • ring of bone spiculation (about 4 optic disc diameters wide) anterior to arcades, maculae normal

Karyotyping (Donor)

Has the donor karyotype been analysed?
Yes

External Databases (Donor)

BioSamples SAMEA3275922

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? No
Has the donor been informed that participation will not directly influence their personal treatment? No
Can you provide us with a copy of the Donor Information Sheet provided to the donor? Yes
Do you (Depositor/Provider) hold a copy of the SIGNED Donor Consent Form? Yes
If you do not hold the SIGNED Donor Consent Form, have you obtained a copy of the unsigned Donor Consent Form from the holder? No
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 pertain to a specific research project? No
Does consent permit unforeseen future research, without further consent? Yes
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? 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 expressly permit collection of genetic information? Yes
Has the donor been informed that their donated biosample or derived cells may be tested for the presence of microbiological agents / pathogens? 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 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? No
Does consent permit access to any other source of information about the clinical treatment or health of the donor? 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? NRES Committee North East Newcastle and Tyneside 1
Approval number 11/NE/0294
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? NRES Committee North East Newcastle and Tyneside 1
Approval number 11/NE/0294
Do you have obligations to third parties in regard to the use of the cell line? Yes
Please describe: Only be used for “eye disease research” due to restrictions mentioned in the original donor consent form.
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
fibroblast of dermis
Source cell origin
zone of skin
Any portion of the organ that covers that body and consists of a layer of epidermis and a layer of dermis.
Synonyms
  • portion of skin
  • skin zone
  • region of skin
  • skin region
  • skin
show more synonyms
Age of donor (at collection) 50-54

Reprogramming method

Vector type Non-integrating
Vector Sendai virus
Genes

Vector free reprogramming

Other

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

Culture Conditions#

Surface coating Matrigel/Geltrex
Passage method Enzyme-free cell dissociation
EDTA
O2 Concentration 20 %
CO2 Concentration 5 %
Medium mTeSR™ 1

Characterisation#

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR FACS Enzymatic Assay Expression Profiles
NANOG
Yes
SSEA-4
Yes
TRA 1-60
Yes
SSEA-1
No
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

Microbiology / Virus Screening

HIV 1 Negative
HIV 2 Negative
Hepatitis B Negative
Hepatitis C Negative
Mycoplasma Negative

Certificate of Analysis

Is there a certificate of analysis available?
Yes
Passage: 26

Genotyping#

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes

Other Genotyping (Cell Line)