ISMMSi001-A

SAMEA104275576, MFS44-E

General#

Cell Line

hPSCreg Name ISMMSi001-A
Alternative name(s)
SAMEA104275576, MFS44-E
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)
Derivation country United States

External Databases

BioSamples SAMEA104275576
Cellosaurus CVCL_QX74

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)
15q21.1
NM_000138.4:c4082G>A
NP_000129.3:pCys1361Tyr
Heterozygous
Is the medical history available upon request? no
Is clinical information available? 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 regurgitation; striae

Karyotyping (Donor)

Has the donor karyotype been analysed?
Yes
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 SAMEA104243178

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) 5-9

Reprogramming method

Vector type None

Vector free reprogramming

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

Other

Selection criteria for clones morphology
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 21 %
CO2 Concentration 5 %
Medium mTeSR™ 1
Has Rock inhibitor (Y27632) been used at passage previously with this cell line?
Yes
Has Rock inhibitor (Y27632) been used at cryo previously with this cell line?
No
Has Rock inhibitor (Y27632) been used at thaw previously with this cell line?
Yes

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
Karyotyping method: G-Banding

Other Genotyping (Cell Line)