LCMD-L302P-UCL01C2

General

Cell Line

hPSCreg name UCLi006-A
Cite as:
UCLi006-A (RRID:CVCL_VF11)
Alternative name(s)
LCMD-L302P-UCL01C2
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines
PUMCHi001-A
(IPS-34)
Donor's gene variants:
LMNA
Donor diseases:
familial partial lipodystrophy type 2
CMDi001-A
(01016)
Donor's gene variants:
LMNA
Donor diseases:
Congenital muscular dystrophy
CMDi003-A
(01174)
Donor's gene variants:
LMNA
Donor diseases:
Congenital muscular dystrophy
CMDi004-A
(01175)
Donor's gene variants:
LMNA
Donor diseases:
Congenital muscular dystrophy
PUMCHi001-A-1
(IPS34-R-17)
Donor's gene variants:
LMNA
Donor diseases:
familial partial lipodystrophy type 2
FAMRCi005-A
(LMNA B4)
Donor's gene variants:
LMNA
Donor diseases:
myopathy
atrioventricular block
Paroxysmal ventricular tachycardia
FAMRCi005-B
(LMNA B5)
Donor's gene variants:
LMNA
Donor diseases:
myopathy
atrioventricular block
Paroxysmal ventricular tachycardia
FAMRCi006-A
(LMNA T3)
Donor's gene variants:
LMNA
Donor diseases:
Emery-Dreifuss Muscular Dystrophy
Dilated Cardiomyopathy
FAMRCi006-B
(LMNA T4)
Donor's gene variants:
LMNA
Donor diseases:
Emery-Dreifuss Muscular Dystrophy
Dilated Cardiomyopathy
UKBi001-B
Donor's gene variants:
ATXN3
Donor diseases:
Spinocerebellar ataxia type 3
UNEWi022-A
(F181 5.8)
Donor's gene variants:
CFH
Donor diseases:
age-related macular degeneration
UNEWi024-A
(F180-1)
Donor's gene variants:
CFH
Donor diseases:
age-related macular degeneration
UNEWi022-B
(F181 18.2)
Donor's gene variants:
CFH
Donor diseases:
age-related macular degeneration
UNEWi022-C
(F181 25.7)
Donor's gene variants:
CFH
Donor diseases:
age-related macular degeneration
UNEWi026-A
(SF116 clone 1)
Donor's gene variants:
CFH
Donor diseases:
type 2 diabetes mellitus
age-related macular degeneration
UNEWi024-B
(F180-2)
Donor's gene variants:
CFH
Donor diseases:
age-related macular degeneration
UNEWi024-C
(F180-3)
Donor's gene variants:
CFH
Donor diseases:
age-related macular degeneration
UNEWi026-B
(SF116 clone 2)
Donor's gene variants:
CFH
Donor diseases:
type 2 diabetes mellitus
age-related macular degeneration
UNEWi026-C
(SF116 clone K)
Donor's gene variants:
CFH
Donor diseases:
type 2 diabetes mellitus
age-related macular degeneration
UKBi003-A
(iLB-MJD1-32m-r9, LB-32-r9)
Donor's gene variants:
ATXN3, ATXN3
Donor diseases:
Spinocerebellar ataxia type 3
UKBi008-A
(iLB-MJD4-34m-r1, LB-34-1)
Donor's gene variants:
ATXN3, ATXN3
Donor diseases:
Spinocerebellar ataxia type 3
NMIi002-A
Donor diseases:
Schizophrenia
NMIi005-A
Donor diseases:
Schizophrenia
NMIi002-B
Donor diseases:
Schizophrenia
UKBi007-A
(LB-33-5, iLB-MJD3-33f-r5)
Donor's gene variants:
ATXN3, ATXN3
Donor diseases:
Spinocerebellar ataxia type 3
CSSi001-A
(Joub03cl2, COR419)
Donor diseases:
Joubert syndrome
NMIi004-A
Donor diseases:
Schizophrenia
NMIi006-A
Donor diseases:
Schizophrenia
NMIi006-B
Donor diseases:
Schizophrenia
ESi100-A
(NW FiPS 10II.3-R4F-1)
Donor diseases:
Williams Syndrome
ESi060-A
([SWB] FiPS-4F-5-6)
Donor diseases:
Williams syndrome
Last update 18th October 2019
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Provider

Generator University College London (UCL)
Distributors
Derivation country United Kingdom

External Databases

BioSamples SAMEA104130970
Cellosaurus CVCL_VF11
Wikidata Q54989674

General Information

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

Donor Information

General Donor Information

Sex male

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • LMNA-related congenital muscular dystrophy
  • L-CMD
Genetic variants
LMNA (target)
1q21.1-21.2
c.905T>C
p.Leu302Pro
Heterozygous
18551513

External Databases (Donor)

BioSamples SAMEA104130971

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? Yes
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. Jean-Marie.CUISSET@CHRU-LILLE.FR
Do you (Depositor/Provider) hold the original Donor Consent Form? Yes
Is there other documentation provided to the donor for consenting purposes? No
Confirm that consent was obtained by a qualified professional Yes
Please indicate whether the data associated with the donated material has been pseudonymised or anonymised. pseudonymised
Does consent explicitly allow the derivation of pluripotent stem cells? Yes
Does consent expressly prevent the derivation of pluripotent stem cells? No
Does consent pertain to a specific research project? Yes
Details on restriction to research project Use in research for muscular dystrophies
Does consent permit unforeseen future research, without further consent? Yes
Does consent expressly prevent development of commercial products? No
Does consent expressly prevent financial gain from any use of the donated embryo/tissue, including any product made from it? No
Does consent prevent the DONATED BIOSAMPLE from being made available to researchers anywhere in the world? No
Does consent prevent CELLS DERIVED FROM THE DONATED BIOSAMPLE from being made available to researchers anywhere in the world? No
How may genetic information associated with the cell line be accessed? No information
Will the donor expect to receive financial benefit, beyond reasonable expenses, in return for donating the biosample? No
Does the consent anticipate that the donor will be notified of results or outcomes of any research involving the donated samples or derived cells? No
Does the consent permit the donor, upon withdrawal of consent, to stop the use of the derived cell line(s) that have already been created from donated samples? Yes
Does the consent permit the donor, upon withdrawal of consent, to stop delivery or use of information and data about the donor? No
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?
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?
Approval number
Do you have obligations to third parties in regard to the use of the cell line? Yes
Please describe: Use in research for muscular dystrophies
Are you aware of any further constraints on the use of the donated embryo/tissue or derived cells? No
For generation of the cell line, who was the supplier of any recombined DNA vectors or commercial kits used?

hIPSC Derivation

General

Source cell type
Any skin fibroblast that is part of some dermis.
Source cell origin
Any portion of the organ that covers that body and consists of a layer of epidermis and a layer of dermis.
Synonyms
  • portion of skin
  • region of skin
  • skin
  • skin region
  • skin zone
show more synonyms

Reprogramming method

Vector type Integrating
Vector Virus (Lentivirus)
Genes
Is the used vector excisable?
No
Absence of reprogramming vector(s)?
No
Reprogramming vectors silenced?
Yes
Methods used
Immunostaining, RT-PCR
Vector map

Vector free reprogramming

Other

Derived under xeno-free conditions
Unknown
Derived under GMP?
Unknown
Available as clinical grade?
Unknown

Culture Conditions

Surface coating Vitronectin
Feeder cells
No
Passage method Enzyme-free cell dissociation
EDTA
Medium TeSR™ E8™

Characterisation

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR Flow Cytometry Enzymatic Assay Expression Profiles
NANOG
Yes
SOX2
Yes
POU5F1 (OCT-4)
Yes
Alkaline Phosphatase
Yes
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
Marker Expressed
Alpha FetoProtein
Yes
FOXA2
Yes
GATA Binding Protein 4
Yes
Mesoderm
Ont Id: UBERON_0000926
Marker Expressed
MSX1
Yes
Ectoderm
Ont Id: UBERON_0000924
Marker Expressed
MAP2
Yes
PAX6
Yes

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
Normal
Karyotyping method: G-Banding

Other Genotyping (Cell Line)