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
GM09276 LCL from B-Lymphocyte

Description:

CARBOXYPEPTIDASE N DEFICIENCY
CARBOXYPEPTIDASE N, POLYPEPTIDE 1, 50-KD; CPN1

Affected:

Yes

Sex:

Male

Age:

73 YR (At Sampling)

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

Overview

back to top
Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Other Disorders of Known Biochemistry
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Angioedema, about 40 attacks per year; urticaria on a few occasions during childhood; long-standing ragweed hay fever and asthma; proband and a sister have approximately 20% of normal carboxypeptidase N activity in serum; donor subject is a compound heterozygote: one allele has a frameshift mutation due to a single G insertion at nucleotide 385 (codon R58) in exon 1 of the CPN1 gene which predicted an abnormal and prematurely truncated protein of 164 amino acids [385fsInsG] and the second allele has a G>A transition at nucleotide 746 in exon 3 (746G>A) that results in a missense gly178-to-asp substitution [Gly178Asp (G178D)]

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
 
lysine carboxypeptidase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.4.17.3; 20% activity.
 
Gene CPN1
Chromosomal Location 10q24.2
Allelic Variant 1 603103.0001; CARBOXYPEPTIDASE N DEFICIENCY
Identified Mutation 1-BP INS, 385G; In the family originally reported by Mathews et al. (1980) in which carboxypeptidase N deficiency (212070) caused angioedema or chronic urticaria, as well as hay fever or asthma, Cao and Hegele (2003) found that the proband was an apparent compound heterozygote for 2 rare variants in the CPN1 gene: a frameshift mutation in exon 1 due to insertion of a single G at nucleotide 385, and a 746G-A transition in exon 3 that resulted in a gly178-to-asp substitution (G178D; 603103.0002).
 
Gene CPN1
Chromosomal Location 10q24.2
Allelic Variant 2 603103.0002; CARBOXYPEPTIDASE N DEFICIENCY
Identified Mutation GLY178ASP; In the family originally reported by Mathews et al. (1980) in which carboxypeptidase N deficiency (212070) caused angioedema or chronic urticaria, as well as hay fever or asthma, Cao and Hegele (2003) found that the proband was an apparent compound heterozygote for 2 rare variants in the CPN1 gene: a frameshift mutation in exon 1 due to insertion of a single G at nucleotide 385, and a 746G-A transition in exon 3 that resulted in a gly178-to-asp substitution (G178D; 603103.0002).

Phenotypic Data

back to top
Remarks Angioedema, about 40 attacks per year; urticaria on a few occasions during childhood; long-standing ragweed hay fever and asthma; proband and a sister have approximately 20% of normal carboxypeptidase N activity in serum; donor subject is a compound heterozygote: one allele has a frameshift mutation due to a single G insertion at nucleotide 385 (codon R58) in exon 1 of the CPN1 gene which predicted an abnormal and prematurely truncated protein of 164 amino acids [385fsInsG] and the second allele has a G>A transition at nucleotide 746 in exon 3 (746G>A) that results in a missense gly178-to-asp substitution [Gly178Asp (G178D)]

Publications

back to top
Cao H, Hegele RA, DNA polymorphism and mutations in CPN1, including the genomic basis of carboxypeptidase N deficiency. J Hum Genet48(1):20-2 2003
PubMed ID: 12560874
 
Mathews KP, Pan PM, Gardner NJ, Hugli TE, Familial carboxypeptidase N deficiency. Ann Intern Med93:443-5 1980
PubMed ID: 7437116
 
Mathews, Familial serum carboxypeptidase B deficiency with angioedema. J Allergy Clin Immunol63:186 (1979):443-5 1979
PubMed ID: 7437116
 
Mathews, Familial carboxypeptidase B deficiency with angioedema. Clin Res26:715A (1978):443-5 1978
PubMed ID: 7437116

External Links

back to top
dbSNP dbSNP ID: 11237
Gene Cards CPN1
Gene Ontology GO:0004182 carboxypeptidase A activity
GO:0004184 lysine carboxypeptidase activity
GO:0005615 extracellular space
GO:0006508 proteolysis and peptidolysis
GO:0008237 metallopeptidase activity
GO:0008270 zinc ion binding
GO:0016787 hydrolase activity
NCBI Gene Gene ID:1369
NCBI GTR 212070 CARBOXYPEPTIDASE N DEFICIENCY
603103 CARBOXYPEPTIDASE N, POLYPEPTIDE 1, 50-KD; CPN1
OMIM 212070 CARBOXYPEPTIDASE N DEFICIENCY
603103 CARBOXYPEPTIDASE N, POLYPEPTIDE 1, 50-KD; CPN1
Omim Description CARBOXYPEPTIDASE N DEFICIENCY

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
  • NA09276 - DNA
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