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 WAe009-A-48 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 YCMi004-A 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
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Provider
Generator	CERVO Brain Research Centre-Université Laval (CBRCUL)
External Databases
BioSamples	SAMEA114532474
Cellosaurus	CVCL_D1FZ
Wikidata	Q127380403
General Information
Publications	Djemai M et al. Generation of a patient-specific iPSC cell line with cardiac arrhythmias and dilated cardiomyopathy (CBRCULi016-A), an isogenic control (CBRCULi016-A-1), and a paternal control (CBRCULi017-A). Stem cell research. 2024 Mar;75:103308. Djemai Mohammed et al. Impacts of DCM-linked gating pore currents on the electrophysiological characteristics of hiPSC-CM monolayers. Biochemical and Biophysical Research Communications. 2024-09-00. Sleiman Y et al. Generation of an iPSC cell line (VANYHHi001-A) from a patient with cardiac arrythmias carrying CACNA1D, SCN5A, and DSP variants. Stem cell research. 2024 Dec;81:103608.
* Is the cell line readily obtainable for third parties?	Yes Research use: allowed Clinical use: not allowed Commercial use: not allowed
Subclone of	CBRCULi016-A

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

Genetic variants

SCN5A (target)

Chromosome location

3p22.2

Nucleotide sequence variant in HGVS format

NC_000003.12:g.38613790C>T

Protein sequence variant in HGVS format

NP_932173.1:p.(Arg219His)

Is the variant homozygous or heterozygous?

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 Expression

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

Endoderm
Ont Id: UBERON_0000925

In vitro directed differentiation

Marker	Expressed
SOX17	Yes
CXCR4	Yes

Mesoderm

Mesoderm
Ont Id: UBERON_0000926

In vitro directed differentiation

Marker	Expressed
PDGFRB	Yes
CDH5	Yes

Ectoderm

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

Genetic modifications

SCN5A (target)

Type of modification

Isogenic modification

Chromosome location

3p22.2

Nucleotide sequence variant in HGVS format

NC_000003.12:g.38613790T>C

Protein sequence variant in HGVS format

NP_932173.1:p.(His219Arg)

How has the target locus been modified?

Repaired

Genetic modifications not related to a disease

Type of modification

Variant

Chromosome location

3p22.2

Nucleotide sequence variant in HGVS format

NC_000003.12:g.38613777G>T

Is the modification homozygous or heterozygous?

Homozygous

Free text

NC_000003.12:g.38613777G>T is a silent mutation introducing a ScaI restriction site on the reverse strand.

SCN5A p.R219H-14C-ISO

General

Cell Line

Provider

External Databases

General Information

Donor Information

General Donor Information

Phenotype and Disease related information (Donor)

SCN5A (target)

External Databases (Donor)

Ethics

hIPSC Derivation

General

Reprogramming method

Vector free reprogramming

Other

Culture Conditions

Characterisation

Analysis of Undifferentiated Cells

Differentiation Potency

Genotyping

Karyotyping (Cell Line)

Other Genotyping (Cell Line)

Genetic Modification

SCN5A (target)