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LUMCi062-A-2

Registration Summary:

iso2LUMC0322iFOPA-03

The cell line is not validated yet.
LUMCi062-A-2

General

Cell Line
hPSCreg name LUMCi062-A-2
Cite as:
LUMCi062-A-2
Alternative name(s)
iso2LUMC0322iFOPA-03
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines No similar lines found.
Last update 30th December 2025
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Provider
Generator Leiden University Medical Center (LUMC)
Owner Leiden University Medical Center (LUMC)
Distributors
Derivation country Netherlands

External Databases
BioSamples SAMEA120818620

General Information
* Is the cell line readily obtainable for third parties?
Yes
Cell line can only be used in: Research related to single ventricle disease or congenital heart disease
Research use: allowed
Clinical use: not allowed
Commercial use: allowed
Subclone of

Donor Information

General Donor Information
Sex male

Phenotype and Disease related information (Donor)
Diseases A disease was diagnosed.
Single Ventricle Defect
Donor was born with tricuspid atresia, a hypoplastic right ventricle, pulmonary stenosis, a persisting left superior vena cava, and a persisting left inferior vena cava draining in the left renal vein. Following Fontan palliation, the donor developed protein-losing enteropathy. The donor also developed short self-terminating episodes of atrial tachycardias/flutter or non-sustained ventricular tachycardia.
The donor is affected.
Stage
Post-operative
Synonyms
  • Single Ventricle
  • Single Ventricle Defect
Congenital Abnormality
The donor harbours a missense variant of unknown significance in the BRAF gene, which is related to RASopathies. Although cardiofaciocutaneous syndrome cannot yet be formally diagnosed in the absence of a (likely) pathogenic BRAF variant classification, the donor shows several features of cardiofaciocutaneous syndrome. These features include high myopia, a horseshoe kidney, sacral hypoplasia, right hip dysplasia, and several dysmorphic physical features. However, the donor shows high intellectual performance, which is not typical of cardiofaciocutaneous syndrome.
Synonyms
  • Birth Defect
  • CONGENITAL DEFECT/DEFORMITY
  • Congenital Abnormality
  • Congenital Anatomic Abnormality
  • Congenital Anatomical Abnormality
  • Congenital Anomalies of Fetus
  • Congenital Anomaly
  • Congenital Anomaly or Birth Defect
  • Congenital Defect
  • Congenital Defect/Deformity
  • Congenital Deformity
  • Congenital Malformation
  • DEFECT/DEFORMITY, CONGENITAL
  • SCONG
show more synonyms
Genetic variants
BRAF (target)
7q34
NM_004333.6:c.1897T > C
NP_004324.2:p.(Tyr633His)
Heterozygous
VCV001319116.7
rs74601026
PMID: 37123657
Is the medical history available upon request? Medical history can be found in the following case reports: https://doi.org/10.1093/ehjcr/ytad176, https://doi.org/10.1093/ehjcr/ytac067.
Is clinical information available? Subject to approval from a medical ethics commitee, TNO-AZL Adult Quality of Life data is additionally available.

Other Genotyping (Donor)
Is there genome-wide genotyping or functional data available?
No

Donor Relations
Other cell lines of this donor

External Databases (Donor)
BioSamples SAMEA117637535

Ethics

Also have a look at the ethics information for the parental line LUMCi062-A .
For generation of the cell line, who was the supplier of any recombined DNA vectors or commercial kits used?
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 LUMCi062-A.

Reprogramming method
Vector type Non-integrating
Vector Episomal
Genes
Is reprogramming vector detectable?
Unknown

Vector free reprogramming

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

Culture Conditions

Surface coating Vitronectin
Feeder cells
No
Passage method Enzyme-free cell dissociation
Gentle Cell Dissociation Reagent
O2 Concentration 20 %
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?
No

Characterisation

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR Flow Cytometry Enzymatic Assay Expression Profiles
POU5F1 (OCT-4)
Yes
–
NANOG
Yes
–
SSEA-4
Yes
–
TRA 1-60
Yes
–

Microbiology / Virus Screening
Mycoplasma Negative

Genotyping

Karyotyping (Cell Line)
Has the cell line karyotype been analysed?
Yes
46 XY, Normal
LUMCi062-A-2_karyotyping.png
Passage number: 21
Karyotyping method: Digital PCR (iCS-digital™ PSC)

Other Genotyping (Cell Line)

Genetic Modification

Genetic modifications not related to a disease
BRAF (target)
Isogenic modification
7q34
NM_004333.6:c.1897T>C
NP_004324.2:p.(Tyr633His)
Heterozygous
The allele containing the c.1897T>C variant was corrected to the reference genome state using the CRISPR/Cas9 genome editing system. Genome editing was performed with Cas9 nuclease.
Repaired