HPIi010-A

Reviewed by Australian Stem Cell Registry

Alternative Names: MYH7-17773-R4A

Details

Description

This induced pluripotent stem cell line was derived by using sendai viral vectors to reprogram an immortalised lymphoblastoid cell line generated from a male Laing Early-onset Distal Myopathy (MYH7-related Skeletal Myopathy) patient. HPIi010-A is described as having a normal karyotype and a heterozygous variant in the MYH7 gene. Expression of OCT4, NANOG, SOX2, CRIPTO, TRA-1-60 and SSEA-4 in undifferentiated cells, and directed differentiation to endoderm, mesoderm and ectoderm have been reported, although endoderm differentiation potential was reportedly lower than observed in a control iPSC.

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)
myh7-related skeletal myopathy

Genetic Information

Genotype Locus
MYH7
Polymorphism
Heterozygous: NM_000257.4:c.4850_4852delAGA p.(Lys1617del)

Associated Publications

Journal Year Article
Stem Cell Research 2024 Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variant.

Line Custodianship

Cell Line Maintainer

Joshua Clayton

Affiliated Institutions
  • Harry Perkins Institute of Medical Research, Nedlands, Australia
View all cell lines from this group

Cell Line Producer

Harry Perkins Institute of Medical Research

Affiliated Institutions
  • Harry Perkins Institute of Medical Research, Nedlands, Australia

Source

Donor Derived

Age: 10-14

Biological Sex: Male

Disease: MONDO:0008050
Label: MYH7-related skeletal myopathy
Definition: Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.

Derivation Details

Induced Pluripotent Cell Derivation Details

Source Cell Type: EFO:0022546
Label: LCL
Definition: Human cell line from tissue infected with Epstein-Barr virus, resembling a lymphoblast

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

Derivation Year: 2022

Reprogramming Method

Vector Type: Not integrated

Vector: Sendai Virus

Ethics

Ethics Number: RA/4/20/1008

Institution Human Research Ethics Council: University of Western Australia Human Research Ethics Committee

Approval Date: None

Modifications

No genomic modifications available for this line.

Quality Assurance

Genomic Characterisation

Passage Number: 13

Karyotype: 46,XY

Karyotype Method: G-banding

Summary: Karyotyping occurred at a resolution of 400 bphs (15 metaphase spreads were counted, 5 were analyzed).

STR analysis Results:

Performed but not available.

Microbiology and Virology Screening

Disease Result
Mycoplasma Negative

Characterisation of Undifferentiated Cells

Marker Method
POU5F1 (OCT-4) Immunostaining
POU5F1 (OCT-4) RT-PCR
SOX2 Immunostaining
SOX2 RT-PCR
SSEA-4 Immunostaining
TRA-1-60 Immunostaining
NANOG RT-PCR
CRIPTO RT-PCR

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: In vitro directed differentiation

Markers: SOX17, SOX17, GATA4

Mesoderm

In vitro directed differentiation

Assessed by: In vitro directed differentiation

Markers: TBXT, TBXT, TBX6

Ectoderm

In vitro directed differentiation

Assessed by: In vitro directed differentiation

Markers: OTX2, OTX2, PAX6

Growth Characteristics

Culture Medium and Growth Conditions

CO2 concentration: 5%

O2 concentration: Unavailable

Medium Items:

  • Base Medium: mTeSR Plus - STEMCELL Technologies
  • Base Coat: Growth Factor Reduced Matrigel - Corning

Passage Method: Enzyme-free cell dissociation