MCRIi037-A

Reviewed by Australian Stem Cell Registry

Alternative Names: NF1_001_Cln3_UC

Details

Description

This induced pluripotent stem cell line was reprogrammed from the peripheral blood mononuclear cells of a male Neurofibromatosis Type 1 patient using non-integrating episomal vectors. MCRIi037-A is described as having a normal karyotype and a variant in the NF1 gene. Expression of OCT4, SSEA-4, NANOG and TRA-1-60 in undifferentiated cells, and in vitro spontaneous differentiation to endoderm, mesoderm have been reported.

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)
neurofibromatosis type 1

Genetic Information

Genotype Locus
NF1
Polymorphism
Heterozygous: NM_000267.3:c.6886delT

Associated Publications

Journal Year Article
Stem Cell Research 2026 Simultaneous reprogramming and gene correction to generate six iPSC lines and isogenic controls from individuals with neurofibromatosis type 1

Line Custodianship

Cell Line Maintainer

Paul 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

Source

Donor Derived

Age: 1-4

Biological Sex: Male

Disease: MONDO:0018975
Label: neurofibromatosis type 1
Definition: A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.

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: 2024

Ethics

Ethics Number: 35118

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

Approval Date: None

Modifications

No genomic modifications available for this line.

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 GSA-24 v3.0; resolution 0.5 Mb).

Microbiology and Virology Screening

Disease Result
Mycoplasma Negative

Characterisation of Undifferentiated Cells

Marker Method
POU5F1 (OCT-4) Immunostaining
NANOG Immunostaining
POU5F1 (OCT-4) Flow cytometry
SSEA-4 Flow cytometry
TRA-1-60 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: In vitro spontaneous differentiation

Markers: SOX17

Mesoderm

In vitro spontaneous differentiation

Assessed by: In vitro spontaneous differentiation

Markers: SMN1

Ectoderm

In vitro spontaneous differentiation

Assessed by: In vitro spontaneous differentiation

Markers: MAP2

Growth Characteristics

Culture Medium and Growth Conditions

CO2 concentration: 5%

O2 concentration: 20%

Medium Items:

  • Base Medium: Essential 8 Medium - Thermo Fisher Scientific Inc.
  • Base Coat: Matrigel - Corning

Passage Method: Enzyme-free cell dissociation