SCTCi037-A-1

G290D

The cell line is not validated yet.

General

Cell Line

hPSCreg name SCTCi037-A-1
Cite as:
SCTCi037-A-1
Alternative name(s)
G290D
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines No similar lines found.
Last update 28th July 2025
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Provider

Generator Radboudumc Stem Cell Technology Center (SCTC)
Owner VIB - Center for Molecular Neurology (VIBCMN)
Distributors
Derivation country Belgium

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

Donor Information

General Donor Information

Sex female

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • DEE7
  • EIEE7
  • KCNQ2-NEE
  • KCNQ2-related epileptic encephalopathy
  • KCNQ2-related neonatal epileptic encephalopathy
  • developmental and epileptic encephalopathy 7
  • epileptic encephalopathy, early infantile, 7
  • epileptic encephalopathy, early infantile, type 7
  • KCNQ2-related disorders
show more synonyms
Genetic variants
KCNQ2 (target)
20q13
NM_172107.4: c.869G>A
NP_742105.1:p.Gly290Asp
Heterozygous

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 SAMEA115428386

Ethics

Also have a look at the ethics information for the parental line SCTCi037-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 SCTCi037-A.

Reprogramming method

Vector free reprogramming

Other

Derived under xeno-free conditions
No
Derived under GMP?
No
Available as clinical grade?
No

Culture Conditions

Surface coating Matrigel/Geltrex
Feeder cells
No
Passage method Enzyme-free cell dissociation
EDTA
CO2 Concentration 5 %
Medium Essential 8™ Flex
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?
Yes
Has Rock inhibitor (Y27632) been used at thaw previously with this cell line?
Yes

Characterisation

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR Flow Cytometry Enzymatic Assay Expression Profiles
Morphology pictures
Differentiation Potency
Mesoderm
Ont Id: UBERON_0000926
Marker Expressed
Desmin
Yes
Ectoderm
Ont Id: UBERON_0000924
Marker Expressed
NESTIN
Unknown

Microbiology / Virus Screening

Mycoplasma Negative

Certificate of Analysis

Is there a certificate of analysis available?
Yes
Passage: 32

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
No

Other Genotyping (Cell Line)

Genetic Modification

Disease/phenotype related modifications
Synonyms
  • DEE7
  • EIEE7
  • KCNQ2-NEE
  • KCNQ2-related epileptic encephalopathy
  • KCNQ2-related neonatal epileptic encephalopathy
  • developmental and epileptic encephalopathy 7
  • epileptic encephalopathy, early infantile, 7
  • epileptic encephalopathy, early infantile, type 7
  • KCNQ2-related disorders
show more synonyms
Genetic modifications
Isogenic modification
NM_172107.4: c.869A>G
NP_742105.1:p.Asp290Gly
Homozygous
Repaired