General

Cell Line
hPSCreg name	LUMCi017-A-1
Cite as: When citing this cell line, please use the hPSCreg name (see Naming Tool ) and the corresponding Research Resource ID (RRID).	LUMCi017-A-1
Alternative name(s)	iso01LUMC0111iALK07
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) Contact: LUMC hiPSC core facility
Owner	Leiden University Medical Center (LUMC)
Derivation country	Netherlands
External Databases
BioSamples	SAMEA118676637
General Information
* Is the cell line readily obtainable for third parties?	No
Subclone of	LUMCi017-A

Donor Information

General Donor Information
Sex	male
Ethnicity	Caucasian
Phenotype and Disease related information (Donor)
Diseases	A disease was diagnosed. Telangiectasia, hereditary hemorrhagic, type 2 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 show less 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	SOX2 KLF4 MYC LIN28 POU5F1
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

Endoderm
Ont Id: UBERON_0000925

Marker	Expressed
SOX17	Yes
FOXA2	Yes

Mesoderm

Mesoderm
Ont Id: UBERON_0000926

Marker	Expressed
Brachyury	Yes
NCAM1	Yes

Ectoderm

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

Hereditary Hemorrhagic Telangiectasia Synonyms Telangiectasia, Hereditary Hemorrahagic, of Rendu, Osler Osler-Weber-Rendu Disease Hereditary Hemorrhagic Telangiectasia Hereditary hemorrhagic telangiectasia show more synonyms show less synonyms Genetic modifications ACVRL1 (target) Type of modification Variant Chromosome location chr.12q13.13 Nucleotide sequence variant in HGVS format c.1042delG Protein sequence variant in HGVS format p.D348fs Is the modification homozygous or heterozygous? Heterozygous