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GM01385 Fibroblast

Description:

HYPERCHOLESTEROLEMIA, FAMILIAL; FHC

Affected:

Yes

Sex:

Male

Age:

38 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Lipid Metabolism
Cell Type Fibroblast
Transformant Untransformed
Race White
Family Member 3
Relation to Proband father
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; elevated plasma cholesterol(334 mg/dL); no xanthomas; father of affected child(GM01355) and unaffected child(GM01386); affected spouse is GM01354.

Characterizations

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Passage Frozen 3
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 

Phenotypic Data

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Remarks Clinically affected; elevated plasma cholesterol(334 mg/dL); no xanthomas; father of affected child(GM01355) and unaffected child(GM01386); affected spouse is GM01354.

Publications

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Giometti CS, Gemmell MA, Anderson NL, Two different variants of the same tropomyosin polypeptide in clones from GM1386 human skin fibroblasts. Biochem Biophys Res Commun128:1247-53 1985
PubMed ID: 4004860

External Links

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dbSNP dbSNP ID: 14616
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

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View pedigree 

Culture Protocols

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Passage Frozen 3
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement -
Pricing
Commercial/For-profit:
$373.00USD
Academic/Non-profit/Government:
$216.00USD
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How to Order
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