General

Cell Line
hPSCreg name	LUMCi059-A-1
Cite as: When citing this cell line, please use the hPSCreg name (see Naming Tool ) and the corresponding Research Resource ID (RRID).	LUMCi059-A-1
Alternative name(s)	Iso71LUMCi232KLHL01
Cell line type	Human induced pluripotent stem cell (hiPSC)
Similar lines	No similar lines found.
Last update	7th June 2024
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Provider
Generator	Leiden University Medical Center (LUMC) Contact: Leiden University Medical Center (LUMC)
Owner	Leiden University Medical Center (LUMC)
Distributors	Leiden University Medical Center (LUMC)
Derivation country	Netherlands
External Databases
BioSamples	SAMEA115597187
General Information
* Is the cell line readily obtainable for third parties?	Yes Cell line can only be used in: To be discussed with Karine Raymond Additional restrictions: Under MTA request addressed to Karine Raymond
Subclone of	LUMCi059-A

Donor Information

General Donor Information
Sex	male
Ethnicity	Caucasian
Phenotype and Disease related information (Donor)
Diseases	A disease was diagnosed. Intermediate epidermolysis bullosa simplex with cardiomyopathy The donor is a carrier of a disease-associated mutation and affected. Synonyms Intermediate EBS with cardiomyopathy Genetic variants KLHL24 (target) Chromosome location 3q27.1 Nucleotide sequence variant in HGVS format c.2T>C Is the variant homozygous or heterozygous? Heterozygous
Family history	No
Is the medical history available upon request?	No
Is clinical information available?	No
Other Genotyping (Donor)
Is there genome-wide genotyping or functional data available?	No
External Databases (Donor)
BioSamples	SAMEA115711133

Ethics

Also have a look at the ethics information for the parental line LUMCi059-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?
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 LUMCi059-A.
Reprogramming method
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?	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 Expression

Marker	Expressed	Immunostaining	RT-PCR	Flow Cytometry	Enzymatic Assay	Expression Profiles
SSEA-4	Yes
NANOG	Yes
POU5F1 (OCT-4)	Yes

Differentiation Potency

Endoderm

Endoderm
Ont Id: UBERON_0000925

In vitro directed differentiation

Marker	Expressed
EOMES	Yes
GATA4	Yes
FOXA2	Yes

Mesoderm

Mesoderm
Ont Id: UBERON_0000926

In vitro directed differentiation

Marker	Expressed
Vimentin	Yes
CDX2	Yes
Brachyury (TBXT)	Yes

Ectoderm

Ectoderm
Ont Id: UBERON_0000924

Marker	Expressed
Nestin	Yes
FABP7	Yes
PAX6	Yes

Microbiology / Virus Screening

Genotyping

Karyotyping (Cell Line)
Has the cell line karyotype been analysed?	Yes 46, XY Passage number: 25 Karyotyping method: G-Banding
Other Genotyping (Cell Line)

Genetic Modification

Disease/phenotype related modifications

Intermediate epidermolysis bullosa simplex with cardiomyopathy Synonyms Intermediate EBS with cardiomyopathy Genetic modifications KLHL24 (target) Type of modification Isogenic modification Chromosome location 3q27.1 Nucleotide sequence variant in HGVS format c.2C>T Is the modification homozygous or heterozygous? Heterozygous Free text Genetic modification to repair the disrupted start codon found in the donor line. How has the target locus been modified? Repaired

Genetic modifications not related to a disease

Type of modification Isogenic modification Chromosome location 3q27.1 Nucleotide sequence variant in HGVS format c. -3 A>G Is the modification homozygous or heterozygous? Heterozygous Free text Mutation that allows rapid screening of candidate clones. How has the target locus been modified? Mutated