General

Cell Line
hPSCreg name	LUMCi023-A-3
Cite as: When citing this cell line, please use the hPSCreg name (see Naming Tool ) and the corresponding Research Resource ID (RRID).	LUMCi023-A-3
Alternative name(s)	Qx8.1.15.30.8 (54 repeats), CQ_SCA1_1_29-54
Cell line type	Human induced pluripotent stem cell (hiPSC)
Similar lines	No similar lines found.
Last update	12th December 2025
Notes	CRISPR/Cas modified clone containing 29 repeats ((CAG)12 CAT CAG CAT (CAG)14) and 54 repeats ((CAG)39 CAT (CAG)14) in the ATXN1 gene involved in spinocerebellar ataxia type 1.
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Provider
Generator	Leiden University Medical Center (LUMC)
Owner	Leiden University Medical Center (LUMC)
Distributors	Leiden University Medical Center (LUMC)
Derivation country	Netherlands
General Information
* Is the cell line readily obtainable for third parties?	Yes Research use: allowed Clinical use: not allowed Commercial use: not allowed
Subclone of	LUMCi023-A

Donor Information

General Donor Information
Sex	female
Ethnicity	Caucasian
Phenotype and Disease related information (Donor)
Diseases	No disease was diagnosed.
Donor Relations
All cell lines of this donor's relatives	Has sister: LUMCi022-A LUMCi022-B LUMCi022-C
External Databases (Donor)
BioSamples	SAMEA6468664

Ethics

Also have a look at the ethics information for the parental line LUMCi023-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 LUMCi023-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	Matrigel/Geltrex
Feeder cells	No
Passage method	Enzyme-free cell dissociation ReLeSR
CO2 Concentration	5 %
Medium	mTeSR™ 1 Supplements Supplement Amount Unit Pen/Strep 1 %
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
NANOG	Yes
POU5F1 (OCT-4)	Yes		–
SSEA-4	Yes	–
SOX2	Yes		–

Differentiation Potency

Endoderm

Endoderm
Ont Id: UBERON_0000925

In vitro spontaneous differentiation

Marker	Expressed
SOX17	Yes
GATA6	Yes

Mesoderm

Mesoderm
Ont Id: UBERON_0000926

In vitro spontaneous differentiation

Marker	Expressed
HAND1	Yes
ACTA2	Yes

Ectoderm

Ectoderm
Ont Id: UBERON_0000924

In vitro spontaneous differentiation

Marker	Expressed
DLK1	Unknown
PAX6	Unknown

Microbiology / Virus Screening
Mycoplasma	Negative

Genotyping

Karyotyping (Cell Line)
Has the cell line karyotype been analysed?	Yes 46, XX (small duplication: chr20:29,811,475-30,628,161dup) Passage number: 25 Karyotyping method: Molecular karyotyping by SNP array http://
Other Genotyping (Cell Line)

Genetic Modification

Disease/phenotype related modifications	Spinocerebellar ataxia type 1 Synonyms SCA1 Genetic modifications ATXN1 (target) Type of modification Isogenic modification Chromosome location 6p22.3 Is the modification homozygous or heterozygous? Heterozygous How has the target locus been modified? Mutated
Genetic modifications not related to a disease