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
GM12318 LCL from B-Lymphocyte

Description:

NORRIE DISEASE; NDP - 310600
NORRIN CYSTINE KNOT GROWTH FACTOR NDP; NDP

Affected:

Yes

Sex:

Male

Age:

44 YR (At Sampling)

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

Overview

back to top
Repository NIGMS Human Genetic Cell Repository
Subcollection Chromosome Abnormalities
Class X Chromosome Markers
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race Other
Ethnicity COSTA RICAN
Family Member 5
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Costa Rican; corneal opacity; atrophy of iris; catarct; nonreactive pupil; fibrous tiss covers retina; diffuse chorioretinal atrophy; severe sensorineural hearing loss with high frequency component; 2 affected brothers; son of GM12315; the donor subject carries a missense mutation in the NDP gene due to a C-to-T transition (CTC>TTC) at nucleotide position 589 which results in the substitution of phenylalanine for leucine [LEU61PHE (L61F)] in exon 3.

Characterizations

back to top
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Gene NDP
Chromosomal Location Xp11.4
Allelic Variant 1 310600.0012; NORRIE DISEASE WITH VENOUS INSUFFICIENCY
Identified Mutation LEU61PHE; Rehm et al. [Hum. Mutat. 9: 402-408 (1997)] identified a large Costa Rican kindred in which 15 males were afflicted with congenital blindness, progressive hearing loss, and venous insufficiency. Studies of the NDP gene showed a point mutation in the third exon resulting in an leu61-to-phe substitution.

Phenotypic Data

back to top
Remarks Costa Rican; corneal opacity; atrophy of iris; catarct; nonreactive pupil; fibrous tiss covers retina; diffuse chorioretinal atrophy; severe sensorineural hearing loss with high frequency component; 2 affected brothers; son of GM12315; the donor subject carries a missense mutation in the NDP gene due to a C-to-T transition (CTC>TTC) at nucleotide position 589 which results in the substitution of phenylalanine for leucine [LEU61PHE (L61F)] in exon 3.

Publications

back to top
Rehm HL, Gutierrez-Espeleta GA, Garcia R, Jimenez G, Khetarpal U, Priest JM, Sims KB, Keats BJ, Morton CC, Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency. Hum Mutat9(5):402-8 1997
PubMed ID: 9143918

External Links

back to top
dbSNP dbSNP ID: 16035
Gene Cards NDP
Gene Ontology GO:0005615 extracellular space
GO:0007033 vacuole organization and biogenesis
GO:0007165 signal transduction
GO:0007267 cell-cell signaling
GO:0007399 neurogenesis
GO:0007601 visual perception
GO:0007605 perception of sound
GO:0008083 growth factor activity
GO:0008283 cell proliferation
NCBI Gene Gene ID:4693
NCBI GTR 300658 NDP GENE; NDP
310600 NORRIE DISEASE; ND
OMIM 300658 NDP GENE; NDP
310600 NORRIE DISEASE; ND
Omim Description ATROPHIA BULBORUM HEREDITARIA
  EPISKOPI BLINDNESSNORRIE DISEASE PROTEIN, INCLUDED
  ND
  NORRIE DISEASE; NDP
  NORRIN, INCLUDED
  PSEUDOGLIOMA

Culture Protocols

back to top
Split Ratio 1:4
Temperature 37 C
Percent CO2 5%
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
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
Related Products
Same Subject
  • NA12318 - DNA
Same Family
  • 1488
Miscellaneous
  • DNA on Demand
  • 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