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NA02095 DNA from Amniotic fluid-derived cell line

Description:

METACHROMATIC LEUKODYSTROPHY

Affected:

Yes

Sex:

Female

Age:

18 FW (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Lysosomal Storage Diseases
Quantity 10 µg
Quantitation Method Please see our FAQ
Biopsy Source Amniotic fluid
Cell Type Amniotic fluid-derived cell line
Transformant Untransformed
Sample Source DNA from Amniotic fluid-derived cell line
Race American Indian/Alaska Native
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Infantile type; passage 3 at CCR; after delivery showed increased urinary sulfatides

Characterizations

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

Phenotypic Data

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Remarks Infantile type; passage 3 at CCR; after delivery showed increased urinary sulfatides

External Links

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dbSNP dbSNP ID: 17367
NCBI GTR 250100 METACHROMATIC LEUKODYSTROPHY; MLD
OMIM 250100 METACHROMATIC LEUKODYSTROPHY; MLD
Omim Description ARYLSULFATASE A DEFICIENCY; ARSA DEFICIENCY
  CEREBRAL SCLEROSIS, DIFFUSE, METACHROMATIC FORM
  CEREBROSIDE SULFATASE DEFICIENCYARYLSULFATASE A, INCLUDED; ARSA, INCLUDED
  METACHROMATIC LEUKODYSTROPHY, ADULT, INCLUDED
  METACHROMATIC LEUKODYSTROPHY, JUVENILE, INCLUDED
  METACHROMATIC LEUKODYSTROPHY, LATE-INFANTILE
  METACHROMATIC LEUKOENCEPHALOPATHY
  MLD
  PSEUDOARYLSULFATASE A DEFICIENCY, INCLUDED
  SULFATIDE LIPIDOSIS
Pricing
Commercial/For-profit:
$281.00USD
Academic/Non-profit/Government:
$139.00USD
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How to Order
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  • GM02095 - Amniotic fluid-derived cell line
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