RYR1-15377-R1B

General

Cell Line

hPSCreg name HPIi009-A
Cite as:
HPIi009-A (RRID:CVCL_D6KI)
Alternative name(s)
RYR1-15377-R1B
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines
HPIi005-A
(RYR1-5-9214-iPSC clone R5)
Donor's gene variants:
RYR1
Donor diseases:
Central core disease
HPIi005-B
(RYR1-5-9214-iPSC clone R11)
Donor's gene variants:
RYR1
Donor diseases:
Central core disease
HPIi006-A
(RYR1-3278-R2A)
Donor's gene variants:
RYR1
Donor diseases:
Central core disease
HPIi008-A
(RYR1-4833-R7)
Donor's gene variants:
RYR1
Donor diseases:
Central core disease
Last update 22nd March 2024
Notes iPSC line derived from EBV-immortalised LCLs (Genethon ID 5-15377). Line has a heterozygous variant in the RYR1 gene: NM_000540.3: c.4038C>A (p.Asn1346Lys).
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Provider

Generator Harry Perkins Institute of Medical Research (HPI)
Owner Harry Perkins Institute of Medical Research (HPI)
Distributors
Derivation country Australia

External Databases

BioSamples SAMEA115133464
Cellosaurus CVCL_D6KI
Wikidata Q127381784

General Information

Publications
* 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.
Genetic variants
RYR1 (target)
19q13.2
NM_000540.3:c.4038C>A
NP_000531.2:p.Asn1346Lys
Heterozygous
VCV000290117.26
29382405

Karyotyping (Donor)

Has the donor karyotype been analysed?
Yes
46,XY
Karyotyping method: G-Banding

Other Genotyping (Donor)

Is there genome-wide genotyping or functional data available?
Yes
Phased long-read sequencing of RYR1 gene

External Databases (Donor)

BioSamples SAMEA115133471

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. Norma B. Romero, nb.romero@institut-myologie.org
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 Norma B. Romero, nb.romero@institut-myologie.org
Confirm that consent was obtained by a qualified professional Yes
Has the donor agreed to be re-contacted? Unknown
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? No
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? No
Does consent expressly permit storage of cells derived from the donated embryo/tissue for an unlimited time? 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 anticipate that the donor will be notified of results or outcomes of any research involving the donated samples or derived cells? 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? Comité de Protection des Personnes
Approval number Est IV DC-2012-1693
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? University of Western Australia Human Research Ethics Committee
Approval number RA/4/20/1008
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
For generation of the cell line, who was the supplier of any recombined DNA vectors or commercial kits used? Thermo Fisher Scientific
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? No

hIPSC Derivation

General

Source cell type
Human cell line from tissue infected with Epstein-Barr virus, resembling a lymphoblast.
Synonyms
  • lymphoblastoid cell
Source cell origin
A liquid tissue; its major function is to transport oxygen throughout the body. It also supplies the tissues with nutrients, removes waste products, and contains various components of the immune system defending the body against infection. Several hormones also travel in the blood.
Synonyms
  • Reticuloendothelial System, Blood
  • Peripheral Blood
  • peripheral blood
  • blood
  • Blood
  • Whole Blood
  • BLOOD
  • portion of blood
  • vertebrate blood
show more synonyms
Source cell type (free text) iPSCs were reprogrammed from EBV-immortalised LCLs banked at Genethon. EBV clearance was validated for these lines.
Age of donor (at collection) 25-29
Passage number reprogrammed 5

Reprogramming method

Vector type Non-integrating
Vector Sendai virus
Genes
Is reprogramming vector detectable?
No
Methods used
RT-PCR
Files and images showing reprogramming vector expressed or silenced

Vector free reprogramming

Type of used vector free reprogramming factor(s)
None

Other

Selection criteria for clones Emerging clones (good morphology) were manually picked from 6-well plates into individual 24-wells. The 'best' clones (based on morphology and lack of spontaneous differentiation) were then manually cleaned and picked again into 12-wells. Individual clones were then manually cleaned (to remove any spontaneous differentiation) before Versene passaging into a 6-well. From this point on, clones were passaged using Versene at a 1:6 to 1:20 split ratio.
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
EDTA
O2 Concentration 20 %
CO2 Concentration 5 %
Medium mTeSR™ Plus
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 Flow Cytometry Enzymatic Assay Expression Profiles
POU5F1 (OCT-4)
Yes
SOX2
Yes
SSEA-4
Yes
TRA 1-60
Yes
NANOG
Yes
CRIPTO
Yes
Morphology pictures
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro directed differentiation
Marker Expressed
GATA4
Yes
SOX17
Yes
Morphology
Immunofluorescence for SOX17 in HPIi009-A, another line HPIi008-A and control SCTi003-A, following directed endoderm differentiation (STEMdiff).
Mesoderm
Ont Id: UBERON_0000926
In vitro directed differentiation
Marker Expressed
TBXT
Yes
TBX6
Yes
Morphology
Immunofluorescence for Brachyury (TBXT) in HPIi009-A, other line HPIi008-A and control SCTi003-A, following directed mesoderm differentiation (STEMdiff).
Ectoderm
Ont Id: UBERON_0000924
In vitro directed differentiation
Marker Expressed
OTX2
Yes
PAX6
Yes
Morphology
Immunofluorescence for OTX2 in HPIi009-A, other line HPIi008-A and control SCTi003-A, following directed ectoderm differentiation (STEMdiff).

Microbiology / Virus Screening

Mycoplasma Negative

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
46,XY
Passage number: 13
Karyotyping method: G-Banding

Other Genotyping (Cell Line)