CBIGi003-A-1

3026-iso, GBA N370S-correction/3026

General#

Cell Line

hPSCreg Name
CBIGi003-A-1
Alternative name(s)
3026-iso, GBA N370S-correction/3026
Cell line type Human induced pluripotent stem cell (hiPSC)
Last update 8th March 2022
Notes Isogenic control for CBIGi003-A.
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Provider

Generator Clinical Biospecimen Imaging and Genetic (C-BIG) Repository (CBIG)

External Databases

BioSamples SAMEA13204589
CLO CLO_0103796

General Information

* Is the cell line readily obtainable for third parties?
Yes
Research: allowed
Clinical: not allowed
Commercial: not allowed
Subclone of

Donor Information#

General Donor Information

Sex female

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
Parkinson's Disease
Synonyms
  • Parkinson Disease
  • Parkinson's disease
  • Parkinson's Disease
Genetic variants
1q21
NM_000157.4:c.1226A>G+/-
NP_000148.2:p.Asn409Ser+/- (also known as p.Asn370Ser)
Heterozygous

External Databases (Donor)

BioSamples SAMEA13204588

Ethics#

Also have a look at the ethics information for the parental line CBIGi003-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 CBIGi003-A.

Reprogramming method

Vector type Non-integrating
Vector Episomal
Is reprogramming vector detectable?
No

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
Gentle Cell Dissociation Reagent
Medium mTeSR™ 1

Characterisation#

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR FACS Enzymatic Assay Expression Profiles
NANOG
Yes
POU5F1 (OCT-4)
Yes
SSEA-4
Yes
TRA 1-60
Yes
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro directed differentiation
Marker Expressed
FOXA2
Yes
Mesoderm
Ont Id: UBERON_0000926
In vitro directed differentiation
Marker Expressed
MIXL1
Yes
Ectoderm
Ont Id: UBERON_0000924
In vitro directed differentiation
Marker Expressed
Pax6
Yes

Genotyping#

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
46,XX
Karyotyping method: G-Banding

Other Genotyping (Cell Line)

Genetic Modification#

Genetic modifications not related to a disease
Isogenic modification
1q21
Heterozygous
After CRISP/Cas9 editing, Sanger sequencing confirmed that the wild-type ACC codon replaced the mutant AGC codon, correcting the heterozygous N370S missense mutation in CBIGi003-A. *Note that one silent mutation C>T was introduced in the corrected allele (heterozygous) 4 bp upstream of the target codon.
Repaired