LGMD2D Pt. 4, LGMD2D #4

General

Cell Line

hPSCreg name UCLi005-A
Cite as:
UCLi005-A (RRID:CVCL_9S57)
Alternative name(s)
LGMD2D Pt. 4, LGMD2D #4
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines No similar lines found.
Last update 22nd May 2019
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Provider

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

External Databases

Cellosaurus CVCL_9S57
BioSamples SAMEA4091959
Wikidata Q54989673

General Information

Publications
Projects
* Is the cell line readily obtainable for third parties?
Yes
Research use: allowed
Clinical use: not allowed
Commercial use: not allowed

Donor Information

General Donor Information

Sex male
Age of donor (at collection) 10-14

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
LGMD 2D
The donor is affected.
Synonyms
  • Erb's muscular dystrophy
  • Leyden-Mbius muscular dystrophy
  • limb girdle 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?
Unknown

External Databases (Donor)

BioSamples SAMEA4091958

Ethics

Has informed consent been obtained from the donor of the embryo/tissue from which the pluripotent stem cells have been derived? Yes
Was the consent voluntarily given? Yes
Has the donor been informed that participation will not directly influence their personal treatment? No
Can you provide us with a copy of the Donor Information Sheet provided to the donor? No
Please provide contact information of the holder of the original Donor Information Sheet.
Do you (Depositor/Provider) hold the original Donor Consent Form? No
If you do not hold the Donor Consent Form, do you know who does? No
Please provide the contact information
Alternatives to consent
Alternative consent approval number
Has the donor been informed about how her/his data will be protected? Yes
Please indicate whether the data associated with the donated material has been pseudonymised or anonymised. pseudonymised
Does consent pertain to a specific research project? No
Details on restriction to research project
Does consent permit unforeseen future research, without further consent? Yes
Does consent expressly permit storage of donated embryo/tissue for an unlimited time? Yes

Does consent permit research by

an academic institution? Yes
a public organisation? Yes
a non-profit company? Yes
Does consent expressly permit collection of genetic information? Yes
Has the donor been informed that their donated biosample or derived cells may be tested for the presence of microbiological agents / pathogens? No
How may genetic information associated with the cell line be accessed? Controlled Access
Will the donor expect to receive financial benefit, beyond reasonable expenses, in return for donating the biosample? No
Does consent permit access to medical records of the donor? Yes
Please describe how access is provided:
Does consent permit access to any other source of information about the clinical treatment or health of the donor? No
Contact data, institution, or website:
Has a favourable opinion been obtained from a research ethics committee, or other ethics review panel, in relation to the Research Protocol including the consent provisions? Yes
Name of accrediting authority involved? MTCC Biobank & Friedrich-Baur-Institut / NHS HRA NRES Committee London - Stanmore
Approval number
Has a favourable opinion been obtained from a research ethics committee, or other ethics review panel, in relation to the PROPOSED PROJECT, involving use of donated embryo/tissue or derived cells? Yes
Name of accrediting authority involved? MTCC Biobank & Friedrich-Baur-Institut / NHS HRA NRES Committee London - Stanmore
Approval number
Do you have obligations to third parties in regard to the use of the cell line? Yes
Please describe: MTCC Biobank notification
Further constraints on use
For generation of the cell line, who was the supplier of any recombined DNA vectors or commercial kits used?
Constraints for use or distribution

hIPSC Derivation

General

Source cell type
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 Flow Cytometry Enzymatic Assay Expression Profiles
Alkaline Phosphatase
Yes
SOX2
Yes
POU5F1 (OCT-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)