AIBNi016-A

Not yet reviewed by Australian Stem Cell Registry

SPG2-S376C1

Details

Tissue & Disease as reported

Biopsy Location
Ontology ID: fma9670
Label: Portion of blood
Definition: Portion of body substance which has as its parts plasma and blood cells.
Tissue for derived iPSC
Disease as reported (Donor)
hereditary spastic paraplegia 56

Genetic Information

Genotype Locus
CYP2U1
Polymorphism
Compound heterozygous: unspecified_reference_CYP2U1:Chr4:107932113(c.471delC(p.Ile158fs)); and: unspecified_reference_CYP2U1:Chr4: 107945564(c.1085T>C(p.Leu362Pro))

Associated Publications

Journal Year Article
Stem cell research 2022 Generation of iPSC lines from hereditary spastic paraplegia 56 (SPG56) patients and family members carrying CYP2U1 mutations

Line Custodianship

Cell Line Maintainer

Wolvetang

Affiliated Institutions
  • Australian Institute for Bioengineering and Nanotechnology, Brisbane, Australia
View all cell lines from this group

Cell Line Producer

Australian Institute for Bioengineering and Nanotechnology

Affiliated Institutions
  • Australian Institute for Bioengineering and Nanotechnology, Brisbane, Australia

Source

Donor Derived

Age: 1-4

Biological Sex: Female

Disease: MONDO:0014015
Label: hereditary spastic paraplegia 56
Definition: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene.

Derivation Details

Induced Pluripotent Cell Derivation Details

Source Cell Type: CL:2000001
Label: peripheral blood mononuclear cell
Definition: A leukocyte with a single non-segmented nucleus in the mature form found in the circulatory pool of blood.

Source Cell Origin: UBERON:0000178
Label: blood
Definition: A fluid that is composed of blood plasma and erythrocytes.

Derivation Year: 2021

Reprogramming Method

Vector Type: Not integrated

Vector: Sendai Virus

Kit: [kit] CytoTune-iPS 2.0 Sendai reprogramming kit

Detected: No

Ethics

Ethics Number: 2019000159

Institution Human Research Ethics Council: The University of Queensland Human Ethics Research Office

Approval Date: To be verified

Modifications

No genomic modifications available for this line.

Quality Assurance

Genomic Characterisation

Passage Number: 16

Karyotype: 46,XX

Karyotype Method: Molecular karyotyping by SNP array

Summary: Molecular Karyotyping by SNP array (Illumina HumanCytoSNP-12)

STR analysis Results:

Performed but not available.

Microbiology and Virology Screening

Disease Result
Mycoplasma Negative

Characterisation of Undifferentiated Cells

Marker Method
NANOG Immunostaining
SOX2 Immunostaining
POU5F1 (OCT-4) Immunostaining
TRA 1-60 Immunostaining
TRA 1-81 Immunostaining

Scorecard Results

Undifferentiated Cells

No available data for this cell line.

Pluripotency

No available data for this cell line.

Pluripotency Characterisation

Endoderm

In vitro directed differentiation

Assessed by: RT-PCR

Markers: CXCR4;FOXA2;SOX17

Mesoderm

In vitro directed differentiation

Assessed by: RT-PCR

Markers: BMP4;HAND1;PDGFRA;RUNX1

Ectoderm

In vitro directed differentiation

Assessed by: RT-PCR

Markers: NR2F2;OTX2;PAX6;VIM

Growth Characteristics

Culture Medium and Growth Conditions

CO2 concentration: 5%

O2 concentration: Unavailable

Medium Items:

  • Base Medium: mTeSR Plus - STEMCELL Technologies
  • Base Coat: Matrigel (hESC Qualified) - Corning

Passage Method: Enzyme-free cell dissociation