ICGi022-A-4

K7-MYBPC3-N515del-2

General

Cell Line

hPSCreg Name
ICGi022-A-4
Alternative name(s)
K7-MYBPC3-N515del-2
Cell line type Human induced pluripotent stem cell (hiPSC)
Last update 19th August 2022
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Provider

Generator Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences (ICG)

External Databases

BioSamples SAMEA110675906
CLO CLO_0103968

General Information

* 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 female
Ethnicity Caucasian

Phenotype and Disease related information (Donor)

Diseases No disease was diagnosed.
Disease associated phenotypes no phenotypes

Karyotyping (Donor)

Has the donor karyotype been analysed?
Unknown

Other Genotyping (Donor)

Is there genome-wide genotyping or functional data available?
Yes
Exome sequencing
https://www.ncbi.nlm.nih.gov/sra/?term=SRR11413027
No disease associated mutation found

External Databases (Donor)

BioSamples SAMN14446266

Ethics

Also have a look at the ethics information for the parental line ICGi022-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? sgRNA (Synthego), Cas9 (NEB), donor oligonucleotide (Biolegio) were used for introduction of c.1543_1545delAAC (p.N515del) mutation in the MYBPC3 gene
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

The source cell information can be found in the parental cell line ICGi022-A.
Passage number reprogrammed 1

Reprogramming method

Vector type Non-integrating
Vector Episomal
Genes
Is reprogramming vector detectable?
No
Methods used
PCR

Vector free reprogramming

Other

Selection criteria for clones ESC-like morphology
Derived under xeno-free conditions
No
Derived under GMP?
No
Available as clinical grade?
No

Culture Conditions

Surface coating Gelatin
Feeder cells Mouse embryonic fibroblasts
Cellfinder Ont Id: http://www.ebi.ac.uk/efo/EFO_0004040
Passage method Enzymatically
TrypLE
O2 Concentration 20 %
CO2 Concentration 5 %
Medium Other medium:
Base medium: Knock-out DMEM
Main protein source: Knock-out serum replacement
Serum concentration: 15 %
Supplements
GlutaMAX 2 mM
NEAA 0.1 mM
Penicillin-Streptomycin 100 U/ml
2-mercaptoethanol 0.05 mM
rhFGF basic 10 ng/ml
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 FACS Enzymatic Assay Expression Profiles
POU5F1 (OCT-4)
Yes
NANOG
Yes
TRA 1-60
Yes
SSEA-4
Yes
Morphology pictures
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro spontaneous differentiation
Marker Expressed
KRT18
Yes
Hepatocyte
Ont Id: CL_0000182
In vitro spontaneous differentiation
Marker Expressed
HNF3b
Yes
Smooth Muscle Cell
Ont Id: CL_0000192
In vitro spontaneous differentiation
Marker Expressed
ACTA2
Yes
Cardiac Muscle Cell
Ont Id: CL_0000746
In vitro spontaneous differentiation
Marker Expressed
NKX2-5
Yes
Neuron
Ont Id: CL_0000540
In vitro spontaneous differentiation
Marker Expressed
TUBB3
Yes
MAP-2
Yes

Microbiology / Virus Screening

Mycoplasma Negative

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
46,XX
Passage number: 10
Karyotyping method: G-Banding

Other Genotyping (Cell Line)

Genetic Modification

Disease/phenotype related modifications
hypertrophic cardiomyopathy
Synonyms
  • Asymmetric Septal Hypertrophies
  • Hypertrophic Obstructive Cardiomyopathies
  • Cardiomyopathy, hypertrophic
  • Subvalvular Stenosis, Idiopathic Hypertrophic
  • Hypertrophic Obstructive Cardiomyopathy
  • HYPERTR OBSTR CARDIOMYOP
  • hyper. obst. cardiomyopathy
  • SUBVALV STENOSIS
  • HCM - Hypertrophic cardiomyopathy
  • IDIOPATHIC HYPERTROPHIC SUBVALV STENOSIS
  • Obstructive Cardiomyopathy, Hypertrophic
  • Hypertrophies, Asymmetric Septal
  • Hypertrophic Cardiomyopathies
  • Cardiomyopathies, Hypertrophic Obstructive
  • Hypertrophic cardiomyopathy (disorder)
  • HOCM - Hypertrophic obstructive cardiomyopathy
  • Primary hypertrophic cardiomyopathy
  • Idiopathic Hypertrophic Subvalvular Stenosis
  • IHSS
  • primary hypertrophic cardiomyopathy (disorder) [Ambiguous]
  • Idiopathic Hypertrophic Subaortic Stenosis
  • Obstructive cardiomyopathy
  • SUBVALV STENOSIS IDIOPATHIC HYPERTROPHIC
  • Hypertrophy, Asymmetric Septal
  • Hypertrophic obstructive cardiomyopathy (disorder)
  • Septal Hypertrophy, Asymmetric
  • Cardiomyopathies, Hypertrophic
  • IHSSs
  • hypertrophic myocardiopathy
  • Cardiomyopathy, Hypertrophic Obstructive
  • HCM
  • Obstructive Cardiomyopathies, Hypertrophic
  • Asymmetric Septal Hypertrophy
  • Septal Hypertrophies, Asymmetric
  • hypertrophic subaortic stenosis
  • obstructive hypertrophic cardiomyopathy
  • hypertrophic obstructive cardiomyopathy
  • hypertrophic cardiomyopathy
show more synonyms
Genetic modifications
MYBPC3 (target)
Isogenic modification
11p11.2
NM_000256.3:c.1543_1545delAAC
NP_000247.2:p.Asn515del
Homozygous
A trinucleotide c.1543_1545delAAC (p.N515del) deletion was introduced in exon 17 of the MYBPC3 gene using CRISPR/Cas9. The mutation was found in patients with hypertrophic cardiomyopathy but its clinical significance is uncertain (according to ClinVar).
Mutated