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
GM02408 Fibroblast

Description:

HYPERCHOLESTEROLEMIA, FAMILIAL; FHC

Affected:

Yes

Sex:

Male

Age:

16 YR (At Sampling)

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

Overview

back to top
Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Lipid Metabolism
Cell Type Fibroblast
Transformant Untransformed
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Normal receptor binding with defective receptor internalization; line JD; internalization index is 2 vs 17-48 for normocholesterolemic fibroblast cultures

Characterizations

back to top
PDL at Freeze 7.66
Passage Frozen 10
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
URACIL DNA GLYCOSYLASE Seal et al (Proc Natl Acad Sci USA 85:2339-2343, 1988) reported that monoclonal antibody, 40.10.09 to normal uracil DNA glycosylase had normal immunoreactivity with the uracil DNA glycosylase from this cell culture. In contrast, the antibody did not recognize or inhibit the native enzyme from five different Bloom syndrome cultures.
 

Phenotypic Data

back to top
Remarks Normal receptor binding with defective receptor internalization; line JD; internalization index is 2 vs 17-48 for normocholesterolemic fibroblast cultures

Publications

back to top
Kellogg G, Thorsson B, Cai Y, Wisotzkey R, Pollock A, Akana M, Fox R, Jansen M, Gudmundsson EF, Patel B, Chang C, Jaremko M, Puig O, Gudnason V, Emilsson V, Molecular screening of familial hypercholesterolemia in Icelanders Scandinavian journal of clinical and laboratory investigation:1-7 2020
PubMed ID: 32706999
 
Passeggio J, Liscum L, Flux of fatty acids through NPC1 lysosomes The Journal of biological chemistry280:10333-9 2005
PubMed ID: 15632139
 
Rumsey SC, Galeano NF, Lipschitz B, Deckelbaum RJ, Oleate and other long chain fatty acids stimulate low density lipoprotein receptor activity by enhancing acyl coenzyme A:cholesterol acyltransferase activity and altering intracellular regulatory cholesterol pools in cultured cells. J Biol Chem270:10008-16 1995
PubMed ID: 7730302
 
Sanan DA, van der Westhuyzen DR, Gevers W, Coetzee GA, Early appearance of dispersed low density lipoprotein receptors on the fibroblast surface during recycling. Eur J Cell Biol48:327-36 1989
PubMed ID: 2744006
 
Seal G, Brech K, Karp SJ, Cool BL, Sirover MA, Immunological lesions in human uracil DNA glycosylase: association with Bloom syndrome. Proc Natl Acad Sci U S A85:2339-43 1988
PubMed ID: 3353381
 
Friedman SJ, Bokesch H, Skehan P, The regulation of sterol metabolism by cell interactions. Exp Cell Res172:463-73 1987
PubMed ID: 3653268
 
Preobrazhensky SN, Tsibulsky VP, Fuki IV, Ivanov VO, Repin VS, Smirnov VN, Enzyme immunoassay of the receptors for modified low density lipoprotein. Anal Biochem154:382-7 1986
PubMed ID: 3524309
 
Barak LS, Webb WW, Diffusion of low density lipoprotein-receptor complex on human fibroblasts. J Cell Biol95:846-52 1982
PubMed ID: 6296157
 
Coetzee GA, van der Westhuyzen DR, Berger GM, Henderson HE, Gevers W, Low density lipoprotein metabolism in cultured fibroblasts from a new group of patients presenting clinically with homozygous familial hypercholesterolemia. Arteriosclerosis2:303-11 1982
PubMed ID: 6287984
 
Via DP, Willingham MC, Pastan I, Gotto AM Jr, Smith LC, Co-clustering and internalization of low-density lipoproteins and alpha 2-macroglobulin in human skin fibroblasts. Exp Cell Res141:15-22 1982
PubMed ID: 6180918
 
Barak LS, Webb WW, Fluorescent low density lipoprotein for observation of dynamics of individual receptor complexes on cultured human fibroblasts. J Cell Biol90:595-604 1981
PubMed ID: 6270157
 
Innerarity TL, Pitas RE, Mahley RW, Receptor binding of cholesterol-induced high-density lipoproteins containing predominantly apoprotein E to cultured fibroblasts with mutations at the low-density lipoprotein receptor locus. Biochemistry19:4359-65 1980
PubMed ID: 7417411
 
Fung CH, Khachadurian AK, Wang CH, Durr IF, Regulation of lipid synthesis by low density lipoproteins in cultured skin fibroblasts in homozygous familial hypercholesterolemia. Biochim Biophys Acta487:445-57 1977
PubMed ID: 195625
 
Brown MS, Goldstein JL, Analysis of a mutant strain of human fibroblasts with a defect in the internalization of receptor-bound low density lipoprotein. Cell9:663-74 1976
PubMed ID: 189940

External Links

back to top
dbSNP dbSNP ID: 22064
NCBI GTR 143890 HYPERCHOLESTEROLEMIA, FAMILIAL, 1; FHCL1
OMIM 143890 HYPERCHOLESTEROLEMIA, FAMILIAL, 1; FHCL1
Omim Description FH
  HYPERCHOLESTEROLEMIA, FAMILIAL; FHC
  HYPERLIPOPROTEINEMIA, TYPE IIA
  LDL RECEPTOR DISORDERLOW DENSITY LIPOPROTEIN RECEPTOR, INCLUDED; LDLR, INCLUDED

Images

back to top
View pedigree 

Culture Protocols

back to top
Passage Frozen 10
Split Ratio 1:2
Temperature 37 C
Percent CO2 5%
Percent O2 3%
Medium Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Substrate Commercially-treated plastic
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
  • NA02408 - DNA
Same Family
  • 272
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