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NA01351 DNA from Fibroblast

Description:

CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA

Affected:

Yes

Sex:

Male

Age:

3 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Connective Tissue, Muscle, and Bone
Quantity 0.050mg
Quantitation Method Please see our FAQ
Biopsy Source Buttock-thigh
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Country of Origin USA
Family Member 1
Family History Y
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; subject born full-term, double breech delivery; noted to have marked contractures of all joints at time of birth; examination at 3 years old reveals: oval face with slight retrognathia; ears are abnormal with a notched, flat helix and convoluted antihelix; flexion contractures have progressively improved since birth - there is slight 10 degree joint flexion contractures of the elbows and knees, but subject is able to ambulate without assistance; X-rays of the long bone reveal generalized osteopenia; X-rays of thoracic spine reveal slight increase in the interpedicular distance; family history: mother, uncle, cousin, and maternal grandfather all have similar symptoms; affected mother is GM01352.

Characterizations

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Passage Frozen 3
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 

Phenotypic Data

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Remarks Clinically affected; subject born full-term, double breech delivery; noted to have marked contractures of all joints at time of birth; examination at 3 years old reveals: oval face with slight retrognathia; ears are abnormal with a notched, flat helix and convoluted antihelix; flexion contractures have progressively improved since birth - there is slight 10 degree joint flexion contractures of the elbows and knees, but subject is able to ambulate without assistance; X-rays of the long bone reveal generalized osteopenia; X-rays of thoracic spine reveal slight increase in the interpedicular distance; family history: mother, uncle, cousin, and maternal grandfather all have similar symptoms; affected mother is GM01352.

External Links

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Gene Ontology GO:0005201 extracellular matrix structural constituent
GO:0005509 calcium ion binding
GO:0005578 extracellular matrix
GO:0009653 morphogenesis
NCBI Gene Gene ID:2201
NCBI GTR 121050 CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA
OMIM 121050 CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA
Omim Description BEALS SYNDROMEFIBRILLIN 2, INCLUDED; FBN2, INCLUDED
  CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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