General

Cell Line
hPSCreg name	CIAUi003-A-1
Cite as: When citing this cell line, please use the hPSCreg name (see Naming Tool ) and the corresponding Research Resource ID (RRID).	CIAUi003-A-1 (RRID:CVCL_C6P2)
Alternative name(s)	BFC4-C, BFC4-CRISPR-corrected
Cell line type	Human induced pluripotent stem cell (hiPSC)
Similar lines	CIAUi003-A (MCCIi005-A-1, BFC4) Donor's gene variants: CASQ2, CASQ2 Donor diseases: catecholaminergic polymorphic ventricular tachycardia 2
Last update	20th January 2023
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Provider
Generator	Centenary Institute of Cancer Medicine and Cell Biology (CIAU) Contact: Centenary Institute of Cancer Medicine and Cell Biology (CIAU)
Owner	Centenary Institute of Cancer Medicine and Cell Biology (CIAU)
Distributors	Centenary Institute of Cancer Medicine and Cell Biology (CIAU)
Derivation country	Australia
External Databases
BioSamples	SAMEA112186035
Cellosaurus	CVCL_C6P2
Wikidata	Q117704246
General Information
* Is the cell line readily obtainable for third parties?	No
Subclone of	CIAUi003-A

Donor Information

General Donor Information
Sex	female
Ethnicity	North-west European
Phenotype and Disease related information (Donor)
Diseases	A disease was diagnosed. Catecholaminergic polymorphic ventricular tachycardia 2 The donor is a carrier of a disease-associated mutation and affected. Synonyms CASQ2 catecholaminergic polymorphic ventricular tachycardia CVPT2 catecholaminergic polymorphic ventricular tachycardia 2 catecholaminergic polymorphic ventricular tachycardia caused by mutation in CASQ2 catecholaminergic polymorphic ventricular tachycardia type 2 ventricular tachycardia, catecholaminergic polymorphic, type 2 CPVT2 ventricular tachycardia, catecholaminergic polymorphic, 2 ventricular tachycardia, stress-induced polymorphic show more synonyms show less synonyms Genetic variants CASQ2 (target) Chromosome location chr1(GRCh38):g.115732968T>C Nucleotide sequence variant in HGVS format NM_001232.4(CASQ2):c.539A>G Protein sequence variant in HGVS format NP_001223.2:p.Lys180Arg Is the variant homozygous or heterozygous? Heterozygous ClinVar SCV000322807.2 dbSNP rs886039816 Publication Pubmed ID PMID:27157848
External Databases (Donor)
BioSamples	SAMEA112190001

Ethics

Also have a look at the ethics information for the parental line CIAUi003-A .

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?

hIPSC Derivation

General
The source cell information can be found in the parental cell line CIAUi003-A.
Reprogramming method
Vector type	Non-integrating
Vector	Episomal
Genes	SOX2 KLF4 MYC EBNA1 Lin28 OCT4
Is reprogramming vector detectable?	No
Methods used	PCR
Notes on reprogramming vector detection	No vectors detected
Vector free reprogramming
Other
Derived under xeno-free conditions	Unknown
Derived under GMP?	Unknown
Available as clinical grade?	Unknown

Culture Conditions

Surface coating	Matrigel/Geltrex
CO2 Concentration	5 %
Medium	mTeSR™ Plus
Has Rock inhibitor (Y27632) been used at passage previously with this cell line?	No
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 Expression

Marker	Expressed	Immunostaining	RT-PCR	Flow Cytometry	Enzymatic Assay	Expression Profiles
OCT4	Yes	–
SSEA-4	Yes	–
TRA 1-60	Yes	–
SOX2	Yes	–

Differentiation Potency

Endoderm

Endoderm
Ont Id: UBERON_0000925

In vitro directed differentiation

Marker	Expressed
CXCR4	Yes
SOX17	Yes

Mesoderm

Cardiac Muscle Cell
Ont Id: CL_0000746

In vitro directed differentiation

Marker	Expressed
TNNT2	Yes
NKX2.5	Yes

Ectoderm

Ectoderm
Ont Id: UBERON_0000924

In vitro directed differentiation

Marker	Expressed
NESTIN	Yes
PAX6	Yes

Microbiology / Virus Screening
Mycoplasma	Negative

Genotyping

Karyotyping (Cell Line)
Has the cell line karyotype been analysed?	Yes Normal BFC4-C_Karyotype.png Karyotyping method: Molecular karyotyping by SNP array
Other Genotyping (Cell Line)

Genetic Modification

Disease/phenotype related modifications

Catecholaminergic polymorphic ventricular tachycardia 2 Synonyms CASQ2 catecholaminergic polymorphic ventricular tachycardia CVPT2 catecholaminergic polymorphic ventricular tachycardia 2 catecholaminergic polymorphic ventricular tachycardia caused by mutation in CASQ2 catecholaminergic polymorphic ventricular tachycardia type 2 ventricular tachycardia, catecholaminergic polymorphic, type 2 CPVT2 ventricular tachycardia, catecholaminergic polymorphic, 2 ventricular tachycardia, stress-induced polymorphic show more synonyms show less synonyms Genetic modifications CASQ2 (target) Type of modification Variant Chromosome location chr1(GRCh38):g.115732968T>C Nucleotide sequence variant in HGVS format NM_001232.4(CASQ2):c.539A>G Protein sequence variant in HGVS format NP_001223.2:p.Lys180Arg Is the modification homozygous or heterozygous? Heterozygous