CBRCULi016-A

SCN5A p.R219H-14C

General

Cell Line

hPSCreg name CBRCULi016-A
Cite as:
CBRCULi016-A (RRID:CVCL_D1FY)
Alternative name(s)
SCN5A p.R219H-14C
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines
CBRCULi016-A-1
(SCN5A p.R219H-14C-ISO)
Donor's gene variants:
SCN5A
Donor diseases:
dilated cardiomyopathy
BBANTWi006-A
(iPSC_BrS9_FB_C7)
Donor's gene variants:
SCN5A
Donor diseases:
Brugada syndrome 1
UKKi030-A
(NP0134-6D)
Donor's gene variants:
SCN5A
Donor diseases:
Brugada syndrome
UKKi030-B
(NP0134-18A)
Donor's gene variants:
SCN5A
Donor diseases:
Brugada syndrome
UKKi030-C
(NP0134-26B)
Donor's gene variants:
SCN5A
Donor diseases:
Brugada syndrome
BBANTWi007-A
(iPSC_BrS10_FB_C3)
Donor's gene variants:
SCN5A
Donor diseases:
Brugada syndrome 1
UKKi008-A
(NP0016-3)
Donor's gene variants:
SCN5A
Donor diseases:
Familial long QT syndrome
CIAUi002-C
(UBC3 M1)
Donor's gene variants:
SCN5A, SCN5A
Donor diseases:
Left bundle branch block
nonischemic cardiomyopathy
CIRMi886-A
(CW30197)
Donor diseases:
Dilated Cardiomyopathy
CIRMi887-A
(CW30198)
Donor diseases:
Dilated Cardiomyopathy
CIRMi889-A
(CW30200)
Donor diseases:
Dilated Cardiomyopathy
CIRMi890-A
(CW30202)
Donor diseases:
Dilated Cardiomyopathy
CIRMi891-A
(CW30203)
Donor diseases:
Dilated Cardiomyopathy
CIRMi892-A
(CW30204)
Donor diseases:
Dilated Cardiomyopathy
CIRMi895-A
(CW30208)
Donor diseases:
Dilated Cardiomyopathy
CIRMi898-A
(CW30211)
Donor diseases:
Dilated Cardiomyopathy
CIRMi899-A
(CW30212)
Donor diseases:
Dilated Cardiomyopathy
CIRMi901-A
(CW30214)
Donor diseases:
Dilated Cardiomyopathy
CIRMi902-A
(CW30215)
Donor diseases:
Dilated Cardiomyopathy
CIRMi905-A
(CW30220)
Donor diseases:
Dilated Cardiomyopathy
CIRMi906-A
(CW30221)
Donor diseases:
Dilated Cardiomyopathy
CIRMi907-A
(CW30222)
Donor diseases:
Dilated Cardiomyopathy
CIRMi911-A
(CW30226)
Donor diseases:
Dilated Cardiomyopathy
CIRMi913-A
(CW30228)
Donor diseases:
Dilated Cardiomyopathy
CIRMi914-A
(CW30229)
Donor diseases:
Dilated Cardiomyopathy
CIRMi916-A
(CW30231)
Donor diseases:
Dilated Cardiomyopathy
CIRMi917-A
(CW30232)
Donor diseases:
Dilated Cardiomyopathy
CIRMi918-A
(CW30233)
Donor diseases:
Dilated Cardiomyopathy
CIRMi921-A
(CW30236)
Donor diseases:
Dilated Cardiomyopathy
CIRMi922-A
(CW30237)
Donor diseases:
Dilated Cardiomyopathy
CIRMi923-A
(CW30238)
Donor diseases:
Dilated Cardiomyopathy
CIRMi925-A
(CW30241)
Donor diseases:
Dilated Cardiomyopathy
CIRMi927-A
(CW30243)
Donor diseases:
Dilated Cardiomyopathy
CIRMi930-A
(CW30246)
Donor diseases:
Dilated Cardiomyopathy
CIRMi933-A
(CW30249)
Donor diseases:
Dilated Cardiomyopathy
CIRMi934-A
(CW30251)
Donor diseases:
Dilated Cardiomyopathy
CIRMi935-A
(CW30253)
Donor diseases:
Dilated Cardiomyopathy
CIRMi938-A
(CW30257)
Donor diseases:
Dilated Cardiomyopathy
CIRMi939-A
(CW30258)
Donor diseases:
Dilated Cardiomyopathy
CIRMi942-A
(CW30261)
Donor diseases:
Dilated Cardiomyopathy
CIRMi943-A
(CW30262)
Donor diseases:
Dilated Cardiomyopathy
CIRMi945-A
(CW30264)
Donor diseases:
Dilated Cardiomyopathy
CIRMi950-A
(CW30269)
Donor diseases:
Dilated Cardiomyopathy
CIRMi951-A
(CW30270)
Donor diseases:
Dilated Cardiomyopathy
CIRMi952-A
(CW30272)
Donor diseases:
Dilated Cardiomyopathy
CIRMi953-A
(CW30273)
Donor diseases:
Dilated Cardiomyopathy
CIRMi954-A
(CW30274)
Donor diseases:
Dilated Cardiomyopathy
CIRMi956-A
(CW30276)
Donor diseases:
Dilated Cardiomyopathy
CIRMi957-A
(CW30279)
Donor diseases:
Dilated Cardiomyopathy
Last update 26th October 2023
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Provider

Generator CERVO Brain Research Centre-Université Laval (CBRCUL)

External Databases

BioSamples SAMEA114425089
Cellosaurus CVCL_D1FY
Wikidata Q127380402

General Information

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

Donor Information

General Donor Information

Sex male

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
cardiac arrhythmia liked to DCM
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • Cardiomyopathy, Congestive
  • Cardiomyopathies, Familial Idiopathic
  • primary dilated cardiomyopathy (disorder)
  • Cardiomyopathies, Congestive
  • Cardiomyopathy, Dilated, CMD1A
  • DCM - Dilated cardiomyopathy
  • Cardiomyopathy, Dilated
  • Dilated Cardiomyopathies
  • Familial Idiopathic Cardiomyopathies
  • COCM - Congestive cardiomyopathy
  • Cardiomyopathy, Dilated, with Conduction Deffect1
  • Congestive cardiomyopathy
  • Familial Idiopathic Cardiomyopathy
  • Idiopathic Cardiomyopathies, Familial
  • Idiopathic Cardiomyopathy, Familial
  • CCM - Congestive cardiomyopathy
  • Cardiomyopathies, Dilated
  • dilated cardiomyopathy
  • Congestive cardiomyopathy (disorder)
  • Congestive dilated cardiomyopathy
  • Primary dilated cardiomyopathy
  • DCM
  • Cardiomyopathy, Familial Idiopathic
  • Cardiomyopathy, Dilated, LMNA
  • Congestive Cardiomyopathies
  • congestive cardiomyopathy
  • familial dilated cardiomyopathy
  • idiopathic dilation cardiomyopathy
  • primary dilated cardiomyopathy
show more synonyms
Genetic variants
SCN5A (target)
3p22.2
NC_000003.12:g.38613790C>T
NP_932173.1:p.(Arg219His)
Heterozygous

External Databases (Donor)

BioSamples SAMEA114425090

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. Dagmar Keller, cardiologist. Emergency Department, University Hospital Zurich, Schmelzbergstrasse 8, CH-8091 Zurich, Switzerland
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 Dagmar Keller, cardiologist. Emergency Department, University Hospital Zurich, Schmelzbergstrasse 8, CH-8091 Zurich, Switzerland
Please indicate whether the data associated with the donated material has been pseudonymised or anonymised. anonymised
Does consent explicitly allow the derivation of pluripotent stem cells? 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
How may genetic information associated with the cell line be accessed? No information
Will the donor expect to receive financial benefit, beyond reasonable expenses, in return for donating the biosample? 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? CER-S neurosciences et santé mentale du CIUSSS de la Capitale-Nationale
Approval number 2019-1734
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
Synonyms
  • fibroblast
  • Fibroblasts
  • Fibroblast
  • FIBROBLAST
show more synonyms
Source cell origin

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

Other

Derived under xeno-free conditions
Unknown
Derived under GMP?
Unknown
Available as clinical grade?
Unknown

Culture Conditions

Medium mTeSR™ Plus

Characterisation

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR Flow Cytometry Enzymatic Assay Expression Profiles
NANOG
Yes
POU5F1 (OCT-4)
Yes
SOX2
Yes
TRA 1-60
Yes
POU5F1 (OCT-4)
Yes
TRA 1-81
Yes
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro directed differentiation
Marker Expressed
SOX17
Yes
CXCR4
Yes
Mesoderm
Ont Id: UBERON_0000926
In vitro directed differentiation
Marker Expressed
PDGFRB
Yes
CDH5
Yes
Ectoderm
Ont Id: UBERON_0000924
In vitro directed differentiation
Marker Expressed
PAX6
Yes
SOX2
Yes

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
XY - Normal
Karyotyping method: KaryoStat+

Other Genotyping (Cell Line)