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GM28861
iPSC
from
Fibroblast
Description:
PITT-HOPKINS SYNDROME; PTHS
TRANSCRIPTION FACTOR 4; TCF4
Affected:
Yes
Sex:
Male
Age:
6
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols
Overview
Repository
NIGMS Human Genetic Cell Repository
Subcollection
Heritable Diseases
PIGI Consented Sample
Protocols
Protocol PDF
Biopsy Source
Skin
Cell Type
Stem cell
Cell Subtype
Induced pluripotent stem cell
Transformant
Reprogrammed (Sendai)
Sample Source
iPSC from Fibroblast
Race
White
Ethnicity
Not Hispanic/Latino
Ethnicity
European
Country of Origin
USA
Family Member
1
Family History
N
Relation to Proband
proband
Confirmation
Molecular characterization before cell line submission to CCR
ISCN
46,XY[20]
Species
Homo
sapiens
Common Name
Human
Remarks
Clinically affected. See "Phenotypic Data" Tab; Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is
Sendai-CytoTune
Characterizations
Passage Frozen
27
Induced Pluripotent Stem Cell
The frozen cell line submitted to the Repository was recovered and expanded. The expanded line was evaluated for viability surface antigen expression and alkaline phosphatase activity. Pluripotency was assessed via embryoid body (EB) formation. Steady-state mRNA expression patterns of undifferentiated iPSC and EBs were determined via real-time PCR. Characterization data are included in the
Certificate of Analysis.
Gene
TCF4
Chromosomal Location
18q21.2
Allelic Variant 1
deletion; PITT-HOPKINS SYNDROME; PTHS
Identified Mutation
q21.2q21.33
Phenotypic Data
Demographic Data
Relation to Proband
proband
Age at Sampling
6 YR
Sex
Male
Age of Onset(If not a control)
0 NB
Age at Diagnosis(If not a control)
2 YR
Hispanic or Latino/Not Hispanic or Latino
Not Hispanic/Latino
Racial Category
White
Country
USA
Data Elements
Clinical Element Type: General NIGMS Catalog Remarks
(Baseline)
Mutation Information
Gene, variant, consequence, and exon number:
DELETION Q21.2Q21.33 IN TCF4 GENE
Zygosity:
Heterozygous
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:
BIRTH
Age at Diagnosis:
2.5 YEARS
In Utero History Information
Birth History Information
Dysmorphic Features
Wide mouth
Widely-spaced teeth
Tented cupid
Additional Information:
FULL CHEEKS
Neurological Symptoms
Corpus callosum abnormalities
Additional Information:
PARTIAL AGENESIS/HYPOPLASIA OF CORPUS CALLOSUM
Optical and Audiological Symptoms
Musculoskeletal Symptoms
Additional Information:
SLENDER/SMALL HANDS, SLENDER/SMALL FEET, SIMIAN CREASE, FETAL PADS
Developmental Milestones
Delayed speech and language development
Delayed gross motor skills
Additional Information:
LIMITED WALKING ABILITY, ABSENT OR SPARCE SPEECH, DELAYED MOTOR DEVELOPMENT
Gastrointestinal Symptoms
Genitourinary Symptoms
Additional Information:
SMALL PENIS
Respiratory and Cardiovascular Symptoms
Cognitive and Behavioral Symptoms
Happy personality
Sensory processing disorder
Aggression
Additional Information:
INTELLECTUAL DISABILITY, STEREOTYPICAL MOVEMENTS
Additional Information
Testing Performed
Treatments and Assistive Devices
Wheelchair or ambulation devices
Orthotics
Communication or learning devices
glasses
Surgeries
TETHERED CORD RELEASE
Medications
Family History
Remarks
Clinically affected. See "Phenotypic Data" Tab; Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is
Sendai-CytoTune
External Links
Gene Cards
TCF4
Gene Ontology
GO:0003677 DNA binding
GO:0003702 RNA polymerase II transcription factor activity
GO:0005634 nucleus
GO:0006357 regulation of transcription from Pol II promoter
NCBI Gene
Gene ID:6925
NCBI GTR
602272 TRANSCRIPTION FACTOR 4; TCF4
610954 PITT-HOPKINS SYNDROME; PTHS
OMIM
602272 TRANSCRIPTION FACTOR 4; TCF4
610954 PITT-HOPKINS SYNDROME; PTHS
Culture Protocols
Passage Frozen
27
Split Ratio
1:6
Temperature
37 C
Percent CO2
5%
Percent O2
AMBIENT
Medium
mTeSR1
Serum
0% none
Substrate
Matrigel
Supplement
-
Pricing
International/Commercial/For-profit:
$1,789.00
USD
U.S. Academic/Non-profit/Government:
$1,110.00
USD
Add to Cart
How to Order
Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form
Related Products
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GM26579 - Fibroblast
GM27357 - Fibroblast
Same Family
NIGMS00075
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