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NA11420 DNA from Fibroblast

Description:

ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC

Affected:

No Data

Sex:

Male

Age:

23 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
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Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Chromosome Abnormalities
Quantity 50 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race Asiatic Indian
Ethnicity GUYANAN
Family Member 1
Relation to Proband proband
Confirmation Karyotypic analysis after cell line submission to CCR
ISCN 49,XYYYY
Species Homo sapiens
Common Name Human
Remarks Mental retardation; medium build; mildly stigmatized; coarse facial features with a pugilistic appearance; bilateral lop ear deformities; mild gynecomastia; radioulnar synostosis; congenital cerebral atrophy; see GM11419 Lymphoid

Characterizations

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Passage Frozen 2
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis
 

Phenotypic Data

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Remarks Mental retardation; medium build; mildly stigmatized; coarse facial features with a pugilistic appearance; bilateral lop ear deformities; mild gynecomastia; radioulnar synostosis; congenital cerebral atrophy; see GM11419 Lymphoid

External Links

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dbSNP dbSNP ID: 11561
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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How to Order
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  • GM11420 - Fibroblast
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