MYH7-19203-R1D

General

Cell Line

hPSCreg name HPIi012-A
Cite as:
HPIi012-A (RRID:CVCL_D6KL)
Alternative name(s)
MYH7-19203-R1D
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines
HPIi010-A
(MYH7-17773-R4A)
Donor's gene variants:
MYH7
Donor diseases:
MYH7-related skeletal myopathy
HPIi011-A
(MYH7-18681-R1A)
Donor's gene variants:
MYH7
Donor diseases:
MYH7-related skeletal myopathy
UKKi025-B
(NP0135-2)
Donor's gene variants:
MYH7
Donor diseases:
Rare hypertrophic cardiomyopathy
UKKi025-C
(NP0135-7)
Donor's gene variants:
MYH7
Donor diseases:
Rare hypertrophic cardiomyopathy
UKKi025-A
(NP0135-1)
Donor's gene variants:
MYH7
Donor diseases:
Rare hypertrophic cardiomyopathy
Last update 1st March 2024
Notes iPSC line derived from EBV-immortalised LCLs (Genethon ID 5-19203). Line has a heterozygous deletion in the MYH7 gene: NM_000257.4: c.4850_4852delAGA (p.Lys1617del).
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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 SAMEA115133467
Cellosaurus CVCL_D6KL
Wikidata Q127381787

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
Age of donor (at collection) 45-49
Ethnicity Italian

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • Gowers disease
  • Laing distal myopathy
  • Laing early-onset distal myopathy
  • MPD1
  • MYH7-related skeletal myopathy
  • distal myopathy type 1
  • myopathy, distal, type 1
  • myopathy distal, type 1
  • myopathy, distal, 1
  • myopathy, distal, early-onset, autosomal dominant
  • myopathy, late distal hereditary
  • myosin storage myopathy
show more synonyms
Genetic variants
MYH7 (target)
14q11.2
NM_000257.4:c.4850_4852delAGA
NP_000248.2:p.Lys1617del
Heterozygous
VCV000190401.34
Multiple publications. PMIDs: 27387980, 24664454, 24300783, 16103042, 15322983, 11166161, 11102913

Karyotyping (Donor)

Has the donor karyotype been analysed?
No

Other Genotyping (Donor)

Is there genome-wide genotyping or functional data available?
Yes
Phased long-read sequencing of MYH7 gene

External Databases (Donor)

BioSamples SAMEA115133474

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? Yes
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 Dr Edoardo Malfatti, https://www.aphp.fr/offre-de-soin/medecin/4042203/066/23
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? 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? 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

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? Yes
Has the donor been informed that their donated biosample or derived cells may be tested for the presence of microbiological agents / pathogens? No
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? Open 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? 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
Does the consent permit the donor, upon withdrawal of consent, to stop delivery or use of information and data about the donor? Yes
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? 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
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? 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) 45-49
Collected in 2019
Source cell line vendor Genethon
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 HPIi012-A, other lines HPIi010-A and HPIi011-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 HPIi012-A, other lines HPIi010-A and HPIi011-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 HPIi012-A, other lines HPIi010-A and HPIi011-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)