LGMD2D Pt. 4, LGMD2D #4

General#

Cell Line

hPSCreg Name UCLi005-A
Alternative name(s)
LGMD2D Pt. 4, LGMD2D #4
Cell line type Human induced pluripotent stem cell (hiPSC)
Last update 8th December 2017
User feedback
No feedback available yet.

Login to share your feedback, experiences or results with the research community.

Provider

Generator University College London (UCL)
Owner Dept of Cell and Developmental Biology
Distributors

External Databases

Cellosaurus CVCL_9S57
BioSamples SAMEA4091959
ECACC 66541068

General Information

Publications
Projects
Is the cell line available in principle? Available with restrictions: Available for non-commercial research

Donor Information#

General Donor Information

Sex male

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
limb-girdle muscular dystrophy
LGMD 2D
The donor is affected.
Synonyms
  • Erb's muscular dystrophy
  • limb girdle muscular dystrophy
  • Leyden-Mbius muscular dystrophy
Genetic variants
SGCA (target)
17q21.33
See publication Supplemental Data table S1: Homozygote, exon 3, 229 C>T, Arg77Cys
Disease associated phenotypes
  • Skeletal muscle weakness, wasting and dystrophy
Non-disease associated phenotypes
  • LGMD2D

Karyotyping (Donor)

Has the donor karyotype been analysed?
Unkown

External Databases (Donor)

BioSamples SAMEA4091958

Ethics#

We are currently revising this section.

hIPSC Derivation#

General

Source cell type
skeletal muscle myoblast
A myoblast that differentiates into skeletal muscle fibers.
Synonyms
  • skeletal myoblast
Age of donor (at collection) 10-14

Reprogramming method

Vector type Integrating
Vector Virus (Retrovirus)
Is the used vector excisable?
No
Absence of reprogramming vector(s)?
No
Reprogramming vectors silenced?

Vector free reprogramming

Other

Derived under xeno-free conditions
No
Derived under GMP?
No
Available as clinical grade?
No

Culture Conditions#

Surface coating Matrigel/Geltrex
Feeder cells
No
O2 Concentration 5 %
Medium TeSR™ E8™

Characterisation#

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR FACS Enzymatic Assay Expression Profiles
Alkaline Phosphatase
Yes
SOX2
Yes
OCT3/4
Yes
Morphology pictures
eb71c48cca238458a3e2dd9cf18f8c57.pdf
Morphology of undifferentiated LGMD2D iPSCs #4 grown without feeder layer cells in chemically defined media. Approximate passage number: 10.
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro spontaneous differentiation
Marker Expressed
AFP
Yes
GATA4
Yes
FOXA2
Yes
Cell Of Skeletal Muscle
Ont Id: CL_0000188
In vitro spontaneous differentiation
In vitro directed differentiation
Marker Expressed
MSX1
Yes
Ectoderm
Ont Id: UBERON_0000924
In vitro spontaneous differentiation
Marker Expressed
MAP2
Yes
PAX6
Yes

Genotyping#

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
LGMD2D Pt.4 HIDEMs (differentiated iPSCs)
Karyotyping method: G-Banding

Other Genotyping (Cell Line)