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
NA02533 DNA from LCL

Description:

MUCOLIPIDOSIS IV
MUCOLIPIN 1; MCOLN1

Affected:

Yes

Sex:

Female

Age:

2 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images

Overview

back to top
Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Lysosomal Storage Diseases
GeT-RM Samples
Class Disorders of Carbohydrate Metabolism
Alternate IDs GM17360 [MUCOLIPIDOSIS IV]
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 ASHKENAZI
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Ashkenazi; see GM02048 Fibroblast; affected sib is GM02529 Amniotic; photophobia; bilateral corneal opacities; abnormal lysosomal storage bodies; donor subject is a compound heterozygote: one allele has an A>G transition in the acceptor splice site of the third intron of the MCOLN1 gene (IVS3AS-2A>G) resulting in the skipping of exon 4; the second allele has a 6,450 bp deletion spanning a region from 928 bp upstream from the first exon to bp 31 of exon 7 (del ex1-ex7)

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
 
MUTATION VERIFICATION The gene mutation(s) in this sample have been verified by 6 laboratories.
 
Gene MCOLN1
Chromosomal Location 19p13.3-p13.2
Allelic Variant 1 605248.0001; MUCOLIPIDOSIS IV
Identified Mutation IVS3AS,A>G,-2; In 12 of 21 Ashkenazi Jewish patients with mucolipidosis IV (252650) associated with the major Ashkenazi founder haplotype defined by Slaugenhaupt et al. (Am J Hum Genet 65:773-778, 1999), Bargal et al. (Nat Genet 26:118-121, 2000) identified a homozygous A-to-G transition in the acceptor splice site of the third intron of the MCOLN1 gene. One heterozygote was found among 60 Ashkenazi normal controls; this was consistent with the estimated frequency of heterozygotes (1/50) in this population. Bassi et al. (Am J Hum Genet 67:1110-1120, 2000) identified this acceptor splice site mutation, which they designated 486-2A-G, as the major founder mutation in Ashkenazi Jewish patients. The mutation disrupted the GT-AG rule of splicing and resulted in a transcript lacking 165 bp, because of the skipping of exon 4. This caused a frameshift leading to a premature translation termination 374 bp downstream. The predicted truncated protein retained only the first 21 amino acids of the wildtype protein.
 
Gene MCOLN1
Chromosomal Location 19p13.3-p13.2
Allelic Variant 2 605248.0002; MUCOLIPIDOSIS IV
Identified Mutation 6,450-BP DEL; In 1 of 21 Ashkenazi Jewish patients with mucolipidosis IV (252650) associated with the minor founder haplotype defined by Slaugenhaupt et al. (Am J Hum Genet 65:773-778, 1999), Bargal et al. (Nat Genet 26:118-121, 2000) identified a homozygous 6,450-bp deletion in the MCOLN1 gene. The deletion spanned a region from 928 bp upstream from the first exon of MCOLN1 to bp 31 of exon 7 (del EX1-EX7).

Phenotypic Data

back to top
Remarks Ashkenazi; see GM02048 Fibroblast; affected sib is GM02529 Amniotic; photophobia; bilateral corneal opacities; abnormal lysosomal storage bodies; donor subject is a compound heterozygote: one allele has an A>G transition in the acceptor splice site of the third intron of the MCOLN1 gene (IVS3AS-2A>G) resulting in the skipping of exon 4; the second allele has a 6,450 bp deletion spanning a region from 928 bp upstream from the first exon to bp 31 of exon 7 (del ex1-ex7)

Publications

back to top
La Cognata V, Cavallaro S, Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases Biomedicines10: 2022
PubMed ID: 36009380
 
Kalman L, Wilson JA, Buller A, Dixon J, Edelmann L, Geller L, Highsmith WE, Holtegaard L, Kornreich R, Rohlfs EM, Payeur TL, Sellers T, Toji L, Muralidharan K, Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent The Journal of molecular diagnostics : JMD11:530-6 2009
PubMed ID: 19815695
 
Hantash FM, Olson SC, Anderson B, Buller A, Chen R, Crossly B, Sun W, Strom CM, Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population The Journal of molecular diagnostics : JMD8:282-7 2006
PubMed ID: 16645217
 
Bassi MT, Manzoni M, Monti E, Pizzo MT, Ballabio A, Borsani G, Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV. Am J Hum Genet67(5):1110-20 2000
PubMed ID: 11013137
 
Kohn G, Livni N, Ornoy A, Sekeles E, Beyth Y, Legum C, Bach G, Cohen MM, Prenatal diagnosis of mucolipidosis IV by electron microscopy. J Pediatr90:62-6 1977
PubMed ID: 830895

External Links

back to top
dbSNP dbSNP ID: 10533
Gene Cards MCOLN1
Gene Ontology GO:0005261 cation channel activity
GO:0005764 lysosome
GO:0006812 cation transport
GO:0006816 calcium ion transport
GO:0016021 integral to membrane
NCBI Gene Gene ID:57192
NCBI GTR 252650 MUCOLIPIDOSIS IV; ML4
605248 MUCOLIPIN 1; MCOLN1
OMIM 252650 MUCOLIPIDOSIS IV; ML4
605248 MUCOLIPIN 1; MCOLN1
Omim Description ML IV
  MUCOLIPIDOSIS IV
  SIALOLIPIDOSIS

Images

back to top
View pedigree 
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
  • GM02533 - B-Lymphocyte
Same Family
  • 229
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