hPSCreg®
This website uses cookies to keep track of login sessions and for internal Matomo Statistics. See our Privacy Policy for details. This website uses cookies, learn more


CBRCULi016-A-1

Registration Summary:

SCN5A p.R219H-14C-ISO

CBRCULi016-A-1

General

Cell Line
hPSCreg name CBRCULi016-A-1
Cite as:
CBRCULi016-A-1 (RRID:CVCL_D1FZ)
Alternative name(s)
SCN5A p.R219H-14C-ISO
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines
CBRCULi016-A
(SCN5A p.R219H-14C)
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
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
CIRMi958-A
(CW30280)
Donor diseases:
Dilated 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
Last update 26th October 2023
User feedback
No feedback available yet.

Login to share your feedback, experiences or results with the research community.

Provider
Generator CERVO Brain Research Centre-Université Laval (CBRCUL)

External Databases
BioSamples SAMEA114532474
Cellosaurus CVCL_D1FZ

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

Donor Information

General Donor Information
Sex male

Phenotype and Disease related information (Donor)
Diseases A disease was diagnosed.
Dilated cardiomyopathy
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

Also have a look at the ethics information for the parental line CBRCULi016-A .
For generation of the cell line, who was the supplier of any recombined DNA vectors or commercial kits used?

hIPSC Derivation

General
The source cell information can be found in the parental cell line CBRCULi016-A.

Reprogramming method
Vector type None

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)

Genetic Modification

Disease/phenotype related modifications
Dilated cardiomyopathy
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 modifications
SCN5A (target)
Isogenic modification
3p22.2
NC_000003.12:g.38613790T>C
NP_932173.1:p.(His219Arg)
Repaired
Genetic modifications not related to a disease
Variant
3p22.2
NC_000003.12:g.38613777G>T
Homozygous
NC_000003.12:g.38613777G>T is a silent mutation introducing a ScaI restriction site on the reverse strand.