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Disease-specific induced pluripotent stem cells: a platform for human disease modeling and drug discovery.
[adrenomyeloneuropathy]
The
generation
of
disease-
specific
induced
pluripotent
stem
cell
(
iPSC
)
lines
from
patients
with
incurable
diseases
is
a
promising
approach
for
studying
disease
mechanisms
and
drug
screening
.
Such
innovation
enables
to
obtain
autologous
cell
sources
in
regenerative
medicine
.
Herein
,
we
report
the
generation
and
characterization
of
iPSCs
from
fibroblasts
of
patients
with
sporadic
or
familial
diseases
,
including
Parkinson
's
disease
(
PD
)
,
Alzheimer
's
disease
(
AD
)
,
juvenile
-onset
,
type
I
diabetes
mellitus
(
JDM
)
,
and
Duchenne
type
muscular
dystrophy
(
DMD
)
,
as
well
as
from
normal
human
fibroblasts
(
WT
)
.
As
an
example
to
modeling
disease
using
disease-
specific
iPSCs
,
we
also
discuss
the
previously
established
childhood
cerebral
adrenoleukodystrophy
(
CCALD
)
-
and
adrenomyeloneuropathy
(
AMN
)
-
iPSCs
by
our
group
.
Through
DNA
fingerprinting
analysis
,
the
origins
of
generated
disease-
specific
iPSC
lines
were
identified
.
Each
iPSC
line
exhibited
an
intense
alkaline
phosphatase
activity
,
expression
of
pluripotent
markers
,
and
the
potential
to
differentiate
into
all
three
embryonic
germ
layers
:
the
ectoderm
,
endoderm
,
and
mesoderm
.
Expression
of
endogenous
pluripotent
markers
and
downregulation
of
retrovirus-delivered
transgenes
[
OCT
4
(
POU
5
F
1
)
,
SOX
2
,
KLF
4
,
and
c-
MYC
]
were
observed
in
the
generated
iPSCs
.
Collectively
,
our
results
demonstrated
that
disease-
specific
iPSC
lines
characteristically
resembled
hESC
lines
.
Furthermore
,
we
were
able
to
differentiate
PD-iPSCs
,
one
of
the
disease-
specific
-i
PSC
lines
we
generated
,
into
dopaminergic
(
DA
)
neurons
,
the
cell
type
mostly
affected
by
PD
.
These
PD-
specific
DA
neurons
along
with
other
examples
of
cell
models
derived
from
disease-
specific
iPSCs
would
provide
a
powerful
platform
for
examining
the
pathophysiology
of
relevant
diseases
at
the
cellular
and
molecular
levels
and
for
developing
new
drugs
and
therapeutic
regimens
.
Diseases
Validation
Diseases presenting
"diabetes mellitus"
symptom
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
allergic bronchopulmonary aspergillosis
alpha-thalassemia
child syndrome
cholangiocarcinoma
cohen syndrome
congenital adrenal hyperplasia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cystinuria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
malignant atrophic papulosis
neuralgic amyotrophy
pyomyositis
sneddon syndrome
typhoid
werner syndrome
wolf-hirschhorn syndrome
This symptom has already been validated