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GM02306 Fibroblast

Description:

DYSTONIA MUSCULORUM DEFORMANS 2; DYT2

Affected:

Yes

Sex:

Male

Age:

13 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Connective Tissue, Muscle, and Bone
Cell Type Fibroblast
Transformant Untransformed
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks See GM02307 Lymphoid; onset at age 10; father is Jewish

Characterizations

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Passage Frozen 2
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis
 

Phenotypic Data

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Remarks See GM02307 Lymphoid; onset at age 10; father is Jewish

Publications

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György B, Cruz L, Yellen D, Aufiero M, Alland I, Zhang X, Ericsson M, Fraefel C, Li YC, Takeda S, Hyman BT, Breakefield XO, Mutant torsinA in the heterozygous DYT1 state compromises HSV propagation in infected neurons and fibroblasts Scientific reports8:2324 2017
PubMed ID: 29396398
 
Sorbi S, Blass JP, Abnormal activation of pyruvate dehydrogenase in Leigh disease fibroblasts. Neurology32:555-8 1982
PubMed ID: 7200213

External Links

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dbSNP dbSNP ID: 23154
NCBI Gene Gene ID:1862
NCBI GTR 224500 DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2
OMIM 224500 DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2
Omim Description DYSTONIA 2, TORSION
  DYSTONIA MUSCULORUM DEFORMANS 2; DYT2
  TORSION DYSTONIA 2, AUTOSOMAL RECESSIVE TYPE

Culture Protocols

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Passage Frozen 2
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
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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