ISMMSi002-A

SAMEA104275578, MFS60-12

General#

Cell Line

hPSCreg Name ISMMSi002-A
Alternative name(s)
SAMEA104275578, MFS60-12
Cell line type Human induced pluripotent stem cell (hiPSC)
Last update 8th December 2017
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Provider

Generator Icahn School of Medicine at Mount Sinai (ISMMS)

External Databases

BioSamples SAMEA104275578
Cellosaurus CVCL_QX45

General Information

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

Donor Information#

General Donor Information

Sex female

Phenotype and Disease related information (Donor)

Diseases A disease was diagnosed.
Marfan syndrome
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#

We are currently revising this section.

hIPSC Derivation#

General

Source cell type
fibroblast
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.
Age of donor (at collection) 25-29

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 FACS 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)