PT-R406W

General

Cell Line

hPSCreg name ITXi013-A
Cite as:
ITXi013-A
Alternative name(s)
PT-R406W
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines
ITXi013-B
(IC-R406)
Donor's gene variants:
DES
Donor diseases:
Desminopathy
INSRMi021-A
(PC177 3c14)
Donor diseases:
myofibrillar myopathy 1
INSRMi019-A
(PC129K8)
Donor diseases:
myofibrillar myopathy 1
INSRMi020-A
(PC130k2c)
Donor diseases:
myofibrillar myopathy 1
INSRMi012-C
(PC173T19)
Donor diseases:
myofibrillar myopathy 1
INSRMi013-A
(PC179c1)
Donor diseases:
myofibrillar myopathy 1
FAMRCi002-A
(OBC7)
Donor diseases:
Desminopathy
AIBNi016-A
(SPG2-S376C1)
Donor diseases:
hereditary spastic paraplegia 56
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
ZJSHi001-A
(ZJSHi-KCNB1)
Donor's gene variants:
KCNB1
Donor diseases:
developmental and epileptic encephalopathy, 26
SCTCi011-A
(IPS18-00072)
Donor diseases:
age-related macular degeneration
CMCi009-A
(CMC-BHD-001)
Donor's gene variants:
FLCN
Donor diseases:
Birt-Hogg-Dube Syndrome
SCTCi015-A
(IPS19-00051)
Donor diseases:
Age-Related Macular Degeneration
CMCi001-A
(CMC-KIN-hiPSC)
Donor diseases:
karyomegalic interstitial nephritis
PFIZi023-A
(B217c8)
Donor's gene variants:
GPR56, GPR56
Donor diseases:
Bilateral Frontoparietal Polymicrogyria
KMUGMCi005-A
(KMUGMCi005TMC8, KN627)
Donor diseases:
Epidermodysplasia Verruciformis
SCVIi091-A
(SCVI2617)
Donor diseases:
transthyretin amyloidosis
CABi003-A
(DH05, AMDdh05-MiPS4F16)
Donor diseases:
Age-Related Macular Degeneration
USPi006-A
(DFNA58-ipsc-dup1-cl2)
Donor diseases:
autosomal dominant nonsyndromic deafness 58
USPi007-A
(DFNA58-ipsc-dup2-cl5)
Donor diseases:
autosomal dominant nonsyndromic deafness 58
KMUGMCi001-A
(KMUGMCi001ACVRL1)
Donor diseases:
Telangiectasia, Hereditary Hemorrhagic
KMUGMCi003-A
(KMUGMCi003ERCC2, KN610)
Donor diseases:
Trichothiodystrophy 1, Photosensitive
KMUGMCi004-A
(KMUGMCi004APC, KN615)
Donor diseases:
familial adenomatous polyposis
PFIZi032-A
(B214c8)
Donor's gene variants:
TSC2
Donor diseases:
Tuberous Sclerosis
WCHi006-A
Donor diseases:
Schizophrenia
PCIi026-A
(PC085)
Donor diseases:
Waardenburg syndrome
IMBAi017-A
(B002-ARID1B#8)
Donor diseases:
Coffin-Siris Syndrome
KSCBi010-A
(DKH005i-A, DKHi005-A)
Donor diseases:
Senior-Loken syndrome
PCIi032-A
(PC087)
Donor diseases:
Waardenburg Syndrome
SZGJMSi001-A
(ZLP-2)
Donor diseases:
Schizophrenia
IMAGINi022-A
(IMAGINE022)
Donor diseases:
Waardenburg syndrome
WCHi003-A
Donor diseases:
Schizophrenia
Last update 23rd January 2024
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Provider

Generator l’institut du thorax (ITX)
Owner l’institut du thorax (ITX)
Distributors
Derivation country France

External Databases

BioSamples SAMEA115125141

General Information

* Is the cell line readily obtainable for third parties?
No

Donor Information

General Donor Information

Sex female
Ethnicity European

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • Desmin-related myofibrillar myopathy
Genetic variants
DES (target)
2q35
NM_001927.4:c.1216C>T
Heterozygous
Disease associated phenotypes
  • ventricular fibrillation

Karyotyping (Donor)

Has the donor karyotype been analysed?
Unknown

Other Genotyping (Donor)

Is there genome-wide genotyping or functional data available?
Yes

Donor Relations

Other cell lines of this donor

External Databases (Donor)

BioSamples SAMEA115125230

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? Yes
Do you (Depositor/Provider) hold the original Donor Consent Form? Yes
Please indicate whether the data associated with the donated material has been pseudonymised or anonymised. anonymised
Does consent explicitly allow the derivation of pluripotent stem cells? 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? Open Access
Will the donor expect to receive financial benefit, beyond reasonable expenses, in return for donating the biosample? 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
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
Mononuclear cells collected from peripheral blood.
Synonyms
  • Peripheral Blood Mononuclear cells
  • Derived Peripheral Blood Mononuclear Cell

Reprogramming method

Vector type Non-integrating
Vector Sendai virus
Is reprogramming vector detectable?
No
Methods used
RT-PCR
Files and images showing reprogramming vector expressed or silenced

Vector free reprogramming

Other

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

Culture Conditions

Surface coating Matrigel/Geltrex
Feeder cells
No
Passage method Enzyme-free cell dissociation
Gentle Cell Dissociation Reagent
O2 Concentration 21 %
CO2 Concentration 5 %
Medium Other medium:
Base medium: iPS Brew
Main protein source:
Serum concentration: %
Has Rock inhibitor (Y27632) been used at passage previously with this cell line?
Yes
Has Rock inhibitor (Y27632) been used at thaw previously with this cell line?
Yes

Characterisation

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR Flow Cytometry Enzymatic Assay Expression Profiles
NANOG
Yes
POU5F1 (OCT-4)
Yes
SOX2
Yes
TRA 1-60
Yes
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro directed differentiation
Marker Expressed
FOXA2
Yes
Mesoderm
Ont Id: UBERON_0000926
In vitro directed differentiation
Marker Expressed
HAND1
Yes
Ectoderm
Ont Id: UBERON_0000924
In vitro directed differentiation
Marker Expressed
PAX6
Yes

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Unknown

Other Genotyping (Cell Line)

Is there genome-wide genotyping or functional data available?
Yes