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GM26068 LCL from B-Lymphocyte

Description:

PITT-HOPKINS SYNDROME; PTHS
TRANSCRIPTION FACTOR 4; TCF4

Affected:

Yes

Sex:

Male

Age:

8 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
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Ethnicity Not Hispanic/Latino
Ethnicity ENGLISH
Country of Origin USA
Family Member 1
Family History N
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; heterozygous for a missense de novo variant of unknown significance c.1841C>T (p.A614V) in exon 18 of TCF4 gene; homozygous for benign variant IVS8+137G>A in ZEB2 gene; onset of symptoms at 9 months of age when milestones were not met; diagnosed at 2 years of age; tested for: urine creatinine, plasma amino acids profile is unremarkable, normal acyclcarnitine profile, and normal urine organic acid; normal methylation pattern in AS critical region; negative for CGG repeat expansion in FMR1 gene; tested by karyotyping and microarray; treatment and management: physical therapy, occupational therapy, orthotics, speech language therapy (regularly, 1+ x/week); eye surgery to correct strabismus; same subject as GM26023 (fibroblast).

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene TCF4
Chromosomal Location 18q21.2
Allelic Variant 1 p.A614V; Pitt-Hopkins Syndrome
Identified Mutation c.1841C>T

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 8 YR
Sex Male
Age of Onset(If not a control) 9 MO
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:  TCF4, C.1841C>T (P.A614V), MISSENSE, EXON 18
Zygosity:  Heterozygous
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:  9 MONTHS
Age at Diagnosis:  2 YEARS
In Utero History Information
Birth History Information
Dysmorphic Features
Strabismus
Neurological Symptoms
Optical and Audiological Symptoms
Musculoskeletal Symptoms
Developmental Milestones
Additional Information:  DEVELOPMENTAL DELAY
Gastrointestinal Symptoms
Genitourinary Symptoms
Respiratory and Cardiovascular Symptoms
Cognitive and Behavioral Symptoms
Additional Information
Testing Performed
Metabolic, Hematologic, and Endocrinologic Testing:  URINE CREATININE: NORMAL URINE ORGANIC ACID: NORMAL PLASMA AMINO ACIDS: UNREMARKABLE ACYCLCARNITINE: NORMAL
Uncategorized Testing:  ANGELMAN SYNDROME CRITICAL REGION: NORMAL METHYLATION CGG REPEAT EXPANSION IN FMR1 GENE: NEGATIVE KARYOTYPING AND MICROARRAY: NORMAL MALE
Treatments and Assistive Devices
Occupational therapy
Physical therapy
Speech therapy
Orthotics
Surgeries  EYE SURGERY TO CORRECT STRABISMUS
Medications
Family History
Remarks Clinically affected; heterozygous for a missense de novo variant of unknown significance c.1841C>T (p.A614V) in exon 18 of TCF4 gene; homozygous for benign variant IVS8+137G>A in ZEB2 gene; onset of symptoms at 9 months of age when milestones were not met; diagnosed at 2 years of age; tested for: urine creatinine, plasma amino acids profile is unremarkable, normal acyclcarnitine profile, and normal urine organic acid; normal methylation pattern in AS critical region; negative for CGG repeat expansion in FMR1 gene; tested by karyotyping and microarray; treatment and management: physical therapy, occupational therapy, orthotics, speech language therapy (regularly, 1+ x/week); eye surgery to correct strabismus; same subject as GM26023 (fibroblast).

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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Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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