Coriell Institute for Medical Research
Coriell Institute of Medical Research
  • Request a Quote
  • Donate
  • Login
  • View Cart
Sample Catalog | Custom Services | Core Facilities | Genomic Data Search
  • Biobank
    • NIGMS
    • NINDS
    • NIA
    • NHGRI
    • NEI
    • Allen Cell Collection
    • Rett Syndrome iPSC Collection
    • Autism Research Resource
    • HD Community Biorepository
    • CDC Cell and DNA
    • J. Craig Venter Institute
    • Orphan Disease Center Collection
    • All Biobanks
  • Research
    • Overview
    • Meet Our Scientists
      • Our Faculty
      • Our Scientific Staff
    • Camden Cancer Research Center
    • Epigenetic Therapies SPORE
    • Core Facilities
    • Epigenomics
    • Camden Opioid Research Initiative (CORI)
    • The Issa & Jelinek Lab
    • The Jian Huang Lab
    • The Luke Chen Lab
      • The Lab
      • The Team
      • Publications
    • The Scheinfeldt Lab
    • The Shumei Song Lab
    • The Nora Engel Lab
      • The Lab
      • The Team
      • Publications
    • Publications
  • Services
    • Overview
    • Biobanking Services
      • Core Services
      • Project Management
      • Research Support Services
      • Sample Cataloging
      • Sample Collection Kits
      • Sample Data Management
      • Sample Distribution
      • Sample Management
      • Sample Procurement
      • Sample Storage
    • Bioinformatics and Biostatistics Services
    • Cellular and Molecular Services
      • Biomarker Research Solutions
      • Cell Culture
      • Nucleic Acid Isolation and Quality Control
    • Clinical Trial Support
      • Overview
      • Sample Collection
      • Data Management
      • Sample Processing and QC
      • Storage and Distribution
      • Biomarker Services
      • Data Analaysis
    • Core Facilties
      • Overview
      • Animal and Xenograft
      • Bioinformatics and Biostatistics
      • Cell Imaging
      • CRISPR Gene Engineering
      • Flow Cytometry and Cell Sorting
      • Genomics and Epigenomics
      • iPSC - Induced Pluripotent Stem Cells
      • Organoids
    • Coriell Marketplace
    • Genomic, Epigenomic and Multiomics Services
    • Stem Cells and iPSC Services
      • Core Services
      • Reprogramming
      • Characterization and Quality Control
      • Differentiated Cell Lines
      • iPSC-Derived Organoids
      • iPSC Expansion
      • iPSC Gene Editing
  • Ordering
    • Stem Cells
    • Cell Lines
    • DNA and RNA
    • Featured Products
      • FFPE
      • HMW DNA
    • Genomic Data Search
    • Search by Catalog ID
    • Help
      • Create Account
      • Order Online
      • Ordering FAQ
      • FAQs/Culture Instructions
      • Reference Materials
        • Biobanks
        • NIGMS Repository
        • NHGRI Repository
        • NINDS Repository
        • NIA Repository
        • NIST
        • GeT-RM
      • Secondary Distribution Policies
      • MTA Assurance Form
      • Shipment Policy
      • Contact Customer Service
  • About Us
    • Our History
    • Meet Our Team
    • Meet Our Board
    • Education
      • Science Fair
      • Summer Experience
      • Outreach
      • Research Program Internship
    • Press Room
      • Press Releases
      • Coriell Blog
      • Annual Report
    • Careers
      • Working at Coriell
    • Giving
      • Donate
      • Giving FAQ
    • Contact Us
    • Legal Notice
  • Login View Cart
search submit
NA25987 DNA from LCL

Description:

PITT-HOPKINS SYNDROME; PTHS
TRANSCRIPTION FACTOR 4; TCF4

Affected:

Yes

Sex:

Female

Age:

2 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links

Overview

back to top
Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
PIGI Consented Sample
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Ethnicity Hispanic/Latino
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; symptom onset at birth; diagnosed at 2 years; mild dysmorphic features: bitemporal narrowing, epicanthal folds, strabismus, high arched narrow palate, and low set simple ears; constipation; delayed motor milestones; speech delay; global developmental delay; whole exome sequencing (WES) revealed a de novo heterozygous c.1738C>T (p.R580W) pathogenic variant in the TCF4 gene; therapies: physical therapy and occupational therapy; family history: two maternal cousins (not in repository) with intellectual disability; unaffected mother is GM25988.

Characterizations

back to top
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Gene TCF4
Chromosomal Location 18q21.2
Allelic Variant 1 602272.0001; Pitt-Hopkins Syndrome
Identified Mutation ARG580TRP; c.1738C>T

Phenotypic Data

back to top
Remarks Clinically affected; symptom onset at birth; diagnosed at 2 years; mild dysmorphic features: bitemporal narrowing, epicanthal folds, strabismus, high arched narrow palate, and low set simple ears; constipation; delayed motor milestones; speech delay; global developmental delay; whole exome sequencing (WES) revealed a de novo heterozygous c.1738C>T (p.R580W) pathogenic variant in the TCF4 gene; therapies: physical therapy and occupational therapy; family history: two maternal cousins (not in repository) with intellectual disability; unaffected mother is GM25988.

External Links

back to top
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
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
Related Products
Same Subject
  • GM25987 - B-Lymphocyte
Same Family
  • 3312
Miscellaneous
  • Custom Services

Our mission is to prevent and cure disease through biomedical research.

CONTACT US

CUSTOMER SERVICE
customerservice@coriell.org (800) 752-3805 • (856) 757-4848
Subscribe to our newsletter here

Coriell Institute for Medical Research
403 Haddon Avenue Camden, NJ 08103, USA (856) 966-7377

Ⓒ 2025 Coriell Institute. All rights reserved.

  • Facebook
  • Linkedin
  • Youtube