SCSe001-A-2

Not yet reviewed by Australian Stem Cell Registry

MCRIe002-A-2, MEL-1 30.3

Details

Tissue & Disease as reported

Disease as reported (Genomic Modifications)
parkinson disease (Gene Knock-out)

Genetic Information

Genotype Locus
RAB39B
Polymorphism
NM_171998.3:c.87_234del(p.Glu30Thrfs*5)
Modifications
Gene Knock-out

Associated Publications

Journal Year Article
Stem cell research 2018 Generation of RAB39B knockout isogenic human embryonic stem cell lines to model RAB39B-mediated Parkinson's disease
Stem Cell Research 2018 Generation of RAB39B knockout isogenic human embryonic stem cell lines to model RAB39B-mediated Parkinson's disease.

Line Custodianship

Cell Line Maintainer

Lockhart

Affiliated Institutions
  • Murdoch Children's Research Institute, Melbourne, Australia
View all cell lines from this group

Cell Line Producer

Murdoch Children's Research Institute

Affiliated Institutions
  • Murdoch Children's Research Institute, Melbourne, Australia

Derivation Details

Ethics

Ethics Number: 28097

Institution Human Research Ethics Council: Royal Children's Hospital Human Research Ethics Committee

Approval Date: To be verified

Modifications

Genomic Modifications

NM_171998.3:c.87_234del(p.Glu30Thrfs*5)

A 148 base pair deletion spanning exon 1 and exon 2 of RAB39B was introduced to model Parkinson Disease (NM_171998.3:c.87_234del (p.Glu30ThrfsTer5)).

Cytoband: Xq28
Mutation Type: Gene Knock-out
Delivery Method: CRISPR/Cas9

Quality Assurance

Genomic Characterisation

Passage Number: Not available

Karyotype: arr(1-22)x2,(XY)x1

Karyotype Method: Molecular karyotyping by SNP array

Summary: Molecular karyotyping by SNP array (Illumina Infinium CoreExome-24; resolution 0.5 Mb). SNPduo comparison to parental cell demonstrated identity and confirmed no alternations to genomic integrity.

Microbiology and Virology Screening

Disease Result
Mycoplasma Negative

Characterisation of Undifferentiated Cells

Marker Method
NANOG Immunostaining
POU5F1 (OCT-4)A Immunostaining
SOX2 Immunostaining
CD9 Flow cytometry
EPCAM Flow cytometry
SSEA-4 Flow cytometry

Scorecard Results

Undifferentiated Cells

No available data for this cell line.

Pluripotency

No available data for this cell line.

Pluripotency Characterisation

Endoderm

In vitro spontaneous differentiation

Assessed by: Immunostaining

Markers: SOX17

Mesoderm

In vitro spontaneous differentiation

Assessed by: Immunostaining

Markers: Brachyury

Ectoderm

In vitro spontaneous differentiation

Assessed by: Immunostaining

Markers: PAX6

Growth Characteristics

Culture Medium and Growth Conditions

CO2 concentration: 10%

O2 concentration: Unavailable

Medium Items:

  • Base Medium: Essential 8 Medium - STEMCELL Technologies
  • Base Coat: Vitronectin - STEMCELL Technologies

Passage Method: Not specified