AIBNi015-A

Not yet reviewed by Australian Stem Cell Registry

SPG1-AU01C15

Details

Tissue & Disease as reported

Biopsy Location
Ontology ID: fma7163
Label: Skin
Definition: Nonparenchymatous organ that consists of the epidermis, dermis and sets of hair and nails and which surrounds the entire body. Subdivisions of the skin surround various body parts; as a whole, the skin constitutes the external layer of the body. Examples: There is only one skin.
Tissue for derived iPSC
Disease as reported (Donor)
hereditary spastic paraplegia 56

Genetic Information

Genotype Locus
CYP2U1
Polymorphism
Compound heterozygous: unspecified_reference_CYP2U1:Chr4:107949437(c.1376C>T(p.Pro459Leu)); and: unspecified_reference_CYP2U1:Chr4:107950250(c.1462C>T(p.Arg488Trp))

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:0000057
Label: fibroblast
Definition: A connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. Flattened and irregular in outline with branching processes; appear fusiform or spindle-shaped.

Source Cell Origin: UBERON:0002097
Label: skin of body
Definition: The organ covering the body that consists of the dermis and epidermis.

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
POU5F1 (OCT-4) Immunostaining
SOX2 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