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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)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links
  • Culture Protocols

Overview

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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

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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

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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

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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

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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:
$1,789.00USD
U.S. Academic/Non-profit/Government:
$1,110.00USD
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
Related Products
Same Subject
  • GM26579 - Fibroblast
  • GM27357 - Fibroblast
Same Family
  • NIGMS00075
Miscellaneous
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