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HDZi003-A-1

Registration Summary:
HDZi003-A-1

General

Cell Line
hPSCreg name HDZi003-A-1
Cite as:
HDZi003-A-1 (RRID:CVCL_D6IR)
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines
HDZi003-A
(hiPSC NP0038)
Donor's gene variants:
TMEM43
Donor diseases:
arrhythmogenic right ventricular dysplasia 5
HDZi001-A
(hiPSC NP0039)
Donor's gene variants:
TMEM43
Donor diseases:
arrhythmogenic right ventricular dysplasia 5
Last update 17th November 2023
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Provider
Generator Heart and Diabetes Center North Rhine Westphalia (HDZ)

External Databases
BioSamples SAMEA114633124
Cellosaurus CVCL_D6IR
Wikidata Q127381602

General Information
Publications
* Is the cell line readily obtainable for third parties?
No
Subclone of

Donor Information

General Donor Information
Sex male

Phenotype and Disease related information (Donor)
Diseases A disease was diagnosed.
Arrhythmogenic right ventricular dysplasia 5
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • ARVC5
  • ARVD5
  • TMEM43 arrhythmogenic right ventricular cardiomyopathy
  • arrhythmogenic right ventricular cardiomyopathy 5
  • arrhythmogenic right ventricular cardiomyopathy caused by mutation in TMEM43
  • arrhythmogenic right ventricular dysplasia 5
  • arrhythmogenic right ventricular dysplasia type 5
  • arrhythmogenic right ventricular dysplasia, familial, type 5
  • familial arrhythmogenic right ventricular dysplasia 5
  • arrhythmogenic right ventricular dysplasia, familial, 5
show more synonyms
Genetic variants
TMEM43 (target)
Ser358Leu
Heterozygous

Other Genotyping (Donor)
Is there genome-wide genotyping or functional data available?
Yes
Exome sequencing

External Databases (Donor)
BioSamples SAMEA114251273

Ethics

Also have a look at the ethics information for the parental line HDZi003-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 HDZi003-A.

Reprogramming method
Vector type Non-integrating
Vector Sendai virus

Vector free reprogramming

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

Culture Conditions

Medium Other medium:
Base medium: StemMACS™ iPS-Brew XF
Main protein source:
Serum concentration: %
Supplements
StemMACS iPS-Brew Supplement XF
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 Flow Cytometry Enzymatic Assay Expression Profiles
SSEA-4
Yes
–
POU5F1 (OCT-4)
Yes
–
SOX2
Yes
–
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro directed differentiation
Mesoderm
Ont Id: UBERON_0000926
In vitro directed differentiation
Ectoderm
Ont Id: UBERON_0000924
In vitro directed differentiation

Genotyping

Karyotyping (Cell Line)

Other Genotyping (Cell Line)

Genetic Modification

Genetic modifications not related to a disease
TMEM43 (target)
Gene knock-out
3p25.1
CRISPR-associated (CRISPR/Cas) System