LUMCi017-A-2

iso02LUMC0111iALK07

The cell line is not validated yet.

General

Cell Line

hPSCreg name LUMCi017-A-2
Cite as:
LUMCi017-A-2
Alternative name(s)
iso02LUMC0111iALK07
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines No similar lines found.
Last update 8th July 2025
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Provider

Generator Leiden University Medical Center (LUMC)
Owner Leiden University Medical Center (LUMC)
Derivation country Netherlands

External Databases

BioSamples SAMEA118678315

General Information

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

Donor Information

General Donor Information

Sex male
Ethnicity Caucasian

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • ACVRL1 hereditary hemorrhagic telangiectasia
  • hereditary hemorrhagic telangiectasia caused by mutation in ACVRL1
  • telangiectasia, hereditary hemorrhagic, type 2
  • HHT2
  • ORW2
  • Osler Weber Rendu syndrome type 2
  • hereditary hemorrhagic telangiectasia type 2
  • pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia-related
  • telangiectasia hereditary hemorrhagic type 2
show more synonyms

Other Genotyping (Donor)

Is there genome-wide genotyping or functional data available?
No

External Databases (Donor)

BioSamples SAMEA5966784

Ethics

Also have a look at the ethics information for the parental line LUMCi017-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 LUMCi017-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

Medium TeSR™ E8™

Characterisation

Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
Marker Expressed
SOX17
Yes
FOXA2
Yes
Mesoderm
Ont Id: UBERON_0000926
Marker Expressed
Brachyury
Yes
NCAM1
Yes
Ectoderm
Ont Id: UBERON_0000924
Marker Expressed
B3-tubulin
Yes
PAX6
Yes

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
No

Other Genotyping (Cell Line)

Genetic Modification

Disease/phenotype related modifications
Synonyms
  • Telangiectasia, Hereditary Hemorrahagic, of Rendu, Osler
  • Osler-Weber-Rendu Disease
  • Hereditary Hemorrhagic Telangiectasia
  • Hereditary hemorrhagic telangiectasia
show more synonyms
Genetic modifications
ACVRL1 (target)
Variant
chr.12q13.13
c.1042delG
p.D348fs
Heterozygous