ISMMSi002-A

SAMEA104275578, MFS60-12

General

Cell Line

hPSCreg name ISMMSi002-A
Cite as:
ISMMSi002-A (RRID:CVCL_QX45)
Alternative name(s)
SAMEA104275578, MFS60-12
Cell line type Human induced pluripotent stem cell (hiPSC)
Similar lines
ISMMSi002-B
(MFS60-3-1, SAMEA104276575)
Donor's gene variants:
FBN1, FBN1
Donor diseases:
Marfan syndrome
ISMMSi001-B
(SAMEA104275577, MFS44-16)
Donor's gene variants:
FBN1, FBN1
Donor diseases:
Marfan syndrome
ISMMSi001-A
(SAMEA104275576, MFS44-E)
Donor's gene variants:
FBN1, FBN1
Donor diseases:
Marfan syndrome
UGENTi001-A-1
(UGENT-MFS003-CRISPR)
Donor diseases:
Marfan Syndrome
INSRMe013-A
(STR-I-301-MFS)
Donor diseases:
Marfan syndrome
CMGANTi005-A
(iPSC_MFS_FBN1_MCE-KB_C8)
Donor diseases:
Marfan Syndrome
ZJUi009-A
(ZJULLi001-A)
Donor diseases:
Marfan Syndrome
UGENTi001-A
(UGENT-MFS003)
Donor diseases:
Marfan Syndrome
VUBe008-A
(VUB08_MFS)
Donor diseases:
Marfan syndrome
CMGANTi008-A
(iPSC_MFS_FBN1_Fi930129_C8)
Donor diseases:
Marfan Syndrome
RGIe062-A
(SI-154)
Donor diseases:
Marfan syndrome
Last update 27th August 2020
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Provider

Generator Icahn School of Medicine at Mount Sinai (ISMMS)

External Databases

BioSamples SAMEA104275578
Cellosaurus CVCL_QX45
Wikidata Q54898308

General Information

* 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 female
Age of donor (at collection) 25-29

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
The donor is a carrier of a disease-associated mutation and affected.
Synonyms
  • MFS
Genetic variants
FBN1 (target)
NM_000138.4:c4082G>A
NP_000129.3:pCys1361Tyr
Heterozygous
Is clinical information available? Clinically affected; dolichostenomelia; high narrow palate; dental crowding; hypermobile small joints; arachnodactyly; myopia; bilateral ectopia lentis; ascending aortic aneurysm; aortic dissection; aortic root replacement at age 28 years; mitral regurgit

Karyotyping (Donor)

Has the donor karyotype been analysed?
Yes
46,XX
Karyotyping method: G-Banding

Other Genotyping (Donor)

Is there genome-wide genotyping or functional data available?
No

Donor Relations

Other cell lines of this donor

External Databases (Donor)

BioSamples SAMEA104275579

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
Provide contact information of the holder of the original Donor Information Sheet: https://catalog.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM21960
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? Yes
Contact information / weblink https://catalog.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=GM21960
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 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? Controlled 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? No
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? 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 line name GM21960
Derived from same source line (potentially other lot and donor, see below):
Source cell type
A connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. Flattened and irregular in outline with branching processes; appear fusiform or spindle-shaped.; These cells may be vimentin-positive, fibronectin-positive, fsp1-positive, MMP-1-positive, collagen I-positive, collagen III-positive, and alpha-SMA-negative.
Age of donor (at collection) 25-29
Source cell line vendor Coriell

Reprogramming method

Vector type None

Vector free reprogramming

Type of used vector free reprogramming factor(s)
mRNA, miRNA
mRNA

Other

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

Culture Conditions

Medium mTeSR™ 1

Characterisation

Analysis of Undifferentiated Cells
Marker Expressed Immunostaining RT-PCR Flow Cytometry Enzymatic Assay Expression Profiles
NANOG
Yes
POU5F1 (OCT-4)
Yes
SOX2
Yes
SSEA-4
Yes
TRA 1-60
Yes
Differentiation Potency
Endoderm
Ont Id: UBERON_0000925
In vitro spontaneous differentiation
Marker Expressed
AFP
Yes
Mesoderm
Ont Id: UBERON_0000926
In vitro spontaneous differentiation
Marker Expressed
ACTA2
Yes
Ectoderm
Ont Id: UBERON_0000924
In vitro spontaneous differentiation
Marker Expressed
TUBB3
Yes

Genotyping

Karyotyping (Cell Line)

Has the cell line karyotype been analysed?
Yes
46,XX

Other Genotyping (Cell Line)